<link rel="stylesheet" href="https://studioyszimg.yxj.org.cn/css/video-js.min.css?v=1"><link rel="stylesheet" href="https://studioyszimg.yxj.org.cn/article/css/base.css?v=5"><link rel="stylesheet" href="https://studioyszimg.yxj.org.cn/article/css/index.css?v=35"><link rel="stylesheet" href="https://ysz-web.yxj.org.cn/live/dist/static/base/index.css?ysz_v=2.0"><script src="https://studioyszimg.yxj.org.cn/js/dsbridge.js?v=13" type="text/javascript"></script><script src="https://ysz-web.yxj.org.cn/dsBridge/main.js?v=26" type="text/javascript"></script><script src="https://ysz-web.yxj.org.cn/live/dist/static/base/fun.js?ysz_v=3" type="text/javascript"></script><script src="https://ysz-web.yxj.org.cn/live/dist/static/js/nativeToWeb.js?v=1" type="text/javascript"></script><div id="ysz-header" style="margin:0;overflow:hidden;"><h1 style="font-size:24px;line-height:1.8;color:#333333;word-wrap:break-word;">呕吐2天,这个常见症状表象下竟是致命罕见病</h1><h2 style="font-size:16px;color:#999999;word-wrap:break-word;"><em style="font-style:normal;margin-right:10px;color:#7f7f7f;display:inline-block;">2022-05-17</em><em style="font-style:normal;margin-right:10px;color:#7f7f7f;display:inline-block;">儿科蜡笔小新</em><em style="font-style:normal;margin-right:10px;color:#7f7f7f;display:inline-block;">原创:医学界儿科频道</em></h2></div><p class="brief">这些临床急危重症,希望医生引起警惕,牢记于心。</p><section style="max-inline-size: 100%; margin: 0px; padding: 0px; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">那天中午值班,其他医生都吃完饭去午休了,危重患者的病情也暂时平稳,一片祥和的样子。据说,值班不能嘴贱,不能说“啊,今天好闲呢”之类的话,连心里也不要这样想。我本来是个无神论者,相信科学,当了医生后有时竟然也“信邪”,最起码是有几分敬畏的。因此从来不敢嘴贱,保持警惕,到处“灭火”,防患于未然。</span></p></section><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">巡房后,和师妹回到空旷的办公室,空气宁静得竟让人有几分“寒意”。板凳还没坐暖,护士突然大喊,“黄医生,有外地转运过来的患者,过来看看。”我心里一声咯噔,在这全国疫情防控的特殊时机,大老远从外地转运过来的患者肯定不简单。一瞬间,肾上腺素飙升,即刻进入战斗状态。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">一个1岁小宝宝,急性病面容,疲倦躺着,对周围环境没有警觉或好奇,闭着眼睛;没有哭闹,呼吸急促,有明显呻吟声,可见明显三凹征、点头呼吸;嘴唇稍青紫,皮肤有明显花斑纹。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">我看了一眼,几秒钟内快速对患儿的整体情况完成大体评估——儿科急诊的“三角评估”(Pediatric Assessment Triangle,PAT)。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">1.儿科急诊的“三角评估”的“ABC”,包括(&nbsp; )</span></strong></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">A.外观(Appearance)</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">B.气道(Airway)</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">C.呼吸(Breathing)</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">D.循环(Circulation)</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">2.如果把病情的危重程度分为I、II、III和IV级,你认为患儿病情属于哪一级( )</span></strong></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">A.I级,特别危重,需要立即医疗介入;</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">B.II级,危重,需要短时间内(0-15分钟)医疗;</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">C.III级,急症,30分钟-1小时内介入即可;</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">D.IV级,一般,等候时间可超过1个小时。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">儿科急诊的“三角评估”,是美国儿科学会提出的,通过视觉与听觉快速收集患者的大体信息,在短时间内做出预判。PAT的组成包括ABC三个方面,即外观(Appearance)、呼吸(Breathing)和循环(Circulation)。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">显然,通过几秒钟的快速评估可以知道,患儿的ABC均不稳定,提示心肺功能衰竭,病情极其危重,需要立即医疗介入。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">转运过来的医生显然没有这种警觉(第三方转运机构),开始慢悠悠地跟我交接班。我打断他的交接,先过床、上心电血氧监护、测血压、吸氧、快速体格检查、扩容、补液、测血糖血气、上血管活性药物、开放气道、紧急致电上级医师支援和准备气管插管……</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">快速处置后,才匆匆跟转运医生交接。我拿过当地医院的出院病例,催促其简单、快速交接。他说:</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">1岁,男孩,因为呕吐2天入院,有少许稀便,当地医生考虑急性胃肠炎和脱水,给予补液纠酸、抗感染等初步治疗,患儿仍有精神疲倦和气促,家属要求转运。于是,联系我们(第三方转运机构)转诊,路上继续补液、给血浆和吸氧,路上还算稳定。</span></p><p><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">显然,当地医院和转运医生都只是把患儿当急性胃肠炎诊治。从简短的交流中,看得出他们知道这个患儿病情危重,但不清楚病因,经过短暂急救后及时转运。我追问了呕吐及腹泻情况、当地医院的治疗细节及病情加重的情况,随后再次投入抢救工作。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">抢救间歇,我询问监护人病史,有了意外收获。家长说:</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">很确定没有腹泻、稀便,第1天呕吐数次,仍可进食,精神也还行,在当地中药治疗。第2天,呕吐越来越厉害,吃奶不好,精神差。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">今日凌晨3点左右,发现患儿四肢冰凉、呼叫无反应和呼吸急促,赶紧抱到当地医院抢救。期间没有发热、腹泻和咳嗽。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">家长强调,其实呕吐总次数也才差不多五六次。</span></p><p><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">3.根据上述病史,你判断患儿的病因是什么?(&nbsp; )</span></strong></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">A.急性胃肠炎、脱水</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">B.食物、药物或毒物中毒</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">C.感染性休克、重症肺炎</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">D.遗传代谢缺陷病</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">4.根据上述病史,你认为患儿呕吐的原因是(&nbsp; )</span></strong></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">A.急性胃肠炎</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">B.中毒</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">C.颅内感染</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">D.代谢相关的胃肠功能障碍</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">通过家长叙述的病史,我们可以看出病情进展的迅猛程度,一开始只是呕吐症状,短时间内出现循环系统功能障碍、呼吸系统功能障碍和意识障碍。病情进展如此之快,令人咋舌,对于当地医院而言,也只能给予对症治疗,暂时稳住生命体征,处理上无可厚非。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">我深知,如果不在短时间内明确疾病方向,只对症支持治疗并不能逆转,需要快速梳理出病情的脉络。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><section class="_135editor" style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; border: 0px none; z-index: 0;"><ul class="custom_macula list-paddingleft-1" style="list-style-type: macula;"><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">患儿以呕吐为突出症状,但没有腹泻、发热,脱水并不严重,更不至于是脱水导致的休克,急性胃肠炎并不能解释其循环、呼吸及神经系统功能障碍;</span></p></li><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">以呕吐起病,没有发热、咳嗽等感染症状,所以也不能用感染性休克、重症肺炎来解释;</span></p></li><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-size: 16px; color: rgb(0, 0, 0);">一直在父母的监护下喂养,明确没有药物、毒物接触史,所以中毒也不能解释。</span></p></li></ul></section><p><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">其实,病史里的重要信息、体格检查的一个细节和简单的辅助检查,能在很短的时间内初步预判患儿的疾病类型。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">患儿以呕吐为突出症状,短期内进展至心肺功能衰竭、意识障碍,没有明显感染症状,体格检查发现肝脏肿大,平脐;当地医院的辅助检查提示代谢性酸中毒、高乳酸血症、凝血时间延长、头颅CT结果没有回报(初步阅片提示脑水肿)。因此,笔者判断,患儿极有可能是高氨血症。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><h2 style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-weight: 400; font-size: 16px; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"></h2><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">氨基酸降解,产生大量氨分子迅速在脑细胞中与谷氨酸形成谷氨酰胺累积在脑细胞中,导致细胞渗透压增高,进一步导致脑水肿(CT证实),出现反应不好和意识障碍;</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">脑水肿导致颅内压增高,表现为呕吐;</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">吃奶不好,加上呕吐,导致能量障碍,氨基酸分解增加,血氨水平进一步升高,恶性循环;</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">脑水肿进一步加重,可在数小时内导致体温不升、四肢冰凉、呕吐加重、肺水肿和过度换气等,极易误诊为急性胃肠炎、中毒、脓毒血症、颅内出血和重症肺炎。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">我们知道,血氨对标本检测有较高要求,溶血、温度过高和转运时间太长可能导致血氨假性升高,影响结果判读。因此,护士抽血后让师妹亲自送检,并嘱托检验科尽快检测。很快结果回报,血氨高达283umol/L(正常范围10-47umol/L)。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">从病理生理角度看,当血氨&gt;200umol/L可导致死亡率明显增加,被认为是高氨危象的阈值,死亡率极高。当高氨血症合并严重代谢性酸中毒时,可能继发于脂肪酸代谢障碍和有机酸代谢异常;合并高乳酸血症,可见于循环衰竭,或丙酮酸羧化酶缺陷。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">患儿血乳酸丙酮酸检查提示,乳酸、丙酮酸升高,乳酸/丙酮酸比值升高,3-羟基丁酸含量升高,3-羟基丁酸/乙酰乙酸比值增高,结合高氨血症、严重代谢性酸中毒及临床表现,考虑丙酮酸羧化酶缺乏症。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">虽然我们在短时间内判断出高氨血症导致的一系列临床表现,并经过急诊和PICU的积极治疗,但由于病情危重,仍然无法逆转病情。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">丙酮酸羧化酶缺乏症属于罕见病,对于绝大多数儿科医生而言,非常陌生。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">绝大多数医生都不能很详细地认识每一种罕见病,但是需要知道什么情况下要考虑罕见病的可能。高氨血症在临床并不少见,有时候是罕见病的表现之一,如果没有引起警惕,很容易误诊为其他疾病。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">呕吐是儿科的常见主诉,最常见于急性胃肠炎,常常合并腹痛、腹泻和发热等症状。但是,也有很多疾病,可以表现得很像胃肠炎,而真相却常常令人大跌眼镜。在儿科诊疗中,我们需要警惕“胃肠炎”表象下的生命危机,笔者根据个人经验总结,希望引起警惕,包括:</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><h2 style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-weight: 400; font-size: 16px; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"></h2><ul class="custom_macula list-paddingleft-1" style="list-style-type: macula;"><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">急腹症:如急性阑尾炎、急性胰腺炎、肠梗阻、肠套叠、肠旋转不良及肠穿孔等危及生命的外科急腹症;</span></p></li></ul><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><ul class="custom_macula list-paddingleft-1" style="list-style-type: macula;"><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">过敏性紫癜:多数过敏性紫癜有皮疹,不容易漏诊,但是少数过敏性紫癜以腹部症状起病,皮疹出现晚或隐匿,需要引起警惕;</span></p></li></ul><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><ul class="custom_macula list-paddingleft-1" style="list-style-type: macula;"><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">心血管急症:如急性心肌炎/爆发性心肌炎、室上性心动过速,常常表现为呕吐、腹痛,容易以为是急性胃肠炎;成人急性心肌梗死多表现为心前区疼痛,而儿童心血管急症反而胃肠症状突出;</span></p></li></ul><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><ul class="custom_macula list-paddingleft-1" style="list-style-type: macula;"><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">代谢危象:包括糖尿病酮症酸中毒、高氨血症、有机酸血症导致的严重代谢性酸中毒、肾上腺危象和甲亢危象等。这一类疾病隐匿,常表现为呼吸道症状、消化道症状或循环症状,极易误诊为急性胃肠炎、喘息性支气管炎/肺炎、感染性休克等;</span></p></li></ul><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><ul class="custom_macula list-paddingleft-1" style="list-style-type: macula;"><li class="list-macula list-macula-paddingleft"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">颅内疾病:包括脑出血、脑水肿、颅内感染、肿瘤和Chiari畸形等。</span></p></li></ul><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">以上临床急危重症,希望儿科医生引起警惕,牢记于心。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">罕见病虽然单一发病率低,但是患有罕见病的总人数并不少,罕见病的病种高达6000+余种,占人类疾病的10%。实际上,由于儿童疾病谱与成人存在较大差异,遗传代谢缺陷病占有较大比例,代谢性危象在儿童急诊并不少见,而大部分儿童代谢性疾病都属于罕见病范畴。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><h2 style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-weight: 400; font-size: 16px;"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; color: rgb(215, 0, 15); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">什么是罕见病?</span></strong></p></h2><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">罕见病是唯一以发病率做为界定的一大类疾病,不同学术团体对罕见病的界定略有不同。WHO将罕见病定义为患病人群占总人口0.65‰-1‰的疾病;我国将罕见病定义为患病率低于1/50万的疾病、新生儿发病率低于1/万的遗传病。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><h2 style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-weight: 400; font-size: 16px;"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; color: rgb(215, 0, 15); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">罕见病都是不能治疗吗?</span></strong></p></h2><p><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">尽管罕见病大部分都是遗传性疾病,但并不意味着无法干预罕见病。事实上,不少罕见病是可防可控的,只要予正确的治疗可以取得良好的疗效。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">1953年,Horat Bickel用实验证明,对苯丙酮尿症(PKU)患者采取限制苯丙氨酸的摄入的饮食疗法,可以有效改善PKU的症状,达到临床治愈。其后,科学家发现很多遗传代谢病都可以通过饮食疗法取得一定的疗效,延缓疾病进展,比如NICCD、肝糖原累积病、戊二酸尿症、尿素循环障碍等。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">以肝糖原累积病为例,日常饮食应以高蛋白、低脂、富含维生素的食物为主,总热量不宜过高;两餐之间和夜间予生玉米粉饮食预防低血糖;除非发生低血糖情况下,否则应避免进食单糖类食物。通过以上饮食治疗,肝糖原累积病可以取得非常好的治疗效果。罕见病的诊断非常困难,但是也有许多罕见病的治疗方法简单到让你吃惊。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">近年来随着检测分析技术的提高,许多遗传代谢性疾病能够获得迅速和准确的诊断,从而使早期治疗干预成为可能。事实上,除了饮食治疗对一些遗传代谢病能取得良好疗效外,通过酶替代治疗(比如戈谢病)、控制毒性代谢产物蓄积、替代终末代谢产物、辅助因子替代治疗、骨髓移植、器官移植、基因治疗和对症支持处理等都可以使得一部分遗传代谢病得到缓解和控制,提高生活质量。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">但许多罕见病如果没有给予及时诊断和治疗,就会导致严重的后遗症,甚至致死致残,如果能早发现、早诊断则能大大改善结局。所以,我们呼吁关注罕见病,特别是关注可防可控的罕见病。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><h2 style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-weight: 400; font-size: 16px;"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; color: rgb(215, 0, 15); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">罕见病能预防吗?</span></strong></p></h2><p><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">尽管越来越多的治疗措施应用于罕见病的治疗,但是对于多数遗传代谢病治疗还是相对困难,且常常需要终身干预,因此对其的预防和产前诊断显得尤为重要。事实上,对罕见病进行广泛的婚前、孕前筛查或实施产前诊断/植入前诊断,可以减少甚至阻止一些罕见病的发生。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">对于曾经生育确诊单基因遗传病的家庭,实施植入产前诊断,即采取体外受精技术,在胚胎分化前取单个细胞进行基因检测,将基因型正常的胚胎植入子宫,可以做到完全预防某些单基因遗传病患儿的出生,也避免了怀孕中期羊水或绒毛穿刺有创检查导致流产的风险。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><h2 style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; font-weight: 400; font-size: 16px;"><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><strong style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important; cursor: text; color: rgb(215, 0, 15);"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">我是否携带致病突变?</span><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; caret-color: red; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">罕见病真的离我们很远吗?</span></span></strong></p></h2><p><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">人无完人,也没有人在基因上是完美的。从事遗传或罕见病相关职业的人都知道,几乎所有的人都携带至少有一种遗传病的致病突变,人群平均每个人都有携带30个遗传病的位点!也就是说人群中,几乎每一对夫妇都有生出罕见病患儿的风险,只是携带相同突变的概率很低而已。</span></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><br/></p><p style="max-inline-size: 100%; padding: 0px; min-height: 1em; cursor: text; color: rgb(0, 0, 0); font-family: 微软雅黑, &quot;Microsoft YaHei&quot;, sans-serif; white-space: normal; caret-color: rgb(255, 0, 0); text-align: justify; line-height: 1.75em; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;"><span style="max-inline-size: 100%; margin: 0px; padding: 0px; cursor: text; font-size: 16px; box-sizing: border-box !important; overflow-wrap: break-word !important; outline: none 0px !important;">在许多会议中,很多专家都肯定了上述观点,也正是因为这些罕见病患者为我们承担了小概率事件,我们正常人应该感谢他们替我们承担了缺陷带来的痛苦。没有过错的生命,只有过错的疾病,每个人都有权利被尊重,我们要给予罕见病患者足够的尊重、关注和关爱!</span></p><p><br/></p><!--auditorInfo-->

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