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婴儿血液乳白色是怎么回事 得的是什么病？

发布日期：2015-05-14 10:39:11编辑：Chen

血的颜色是红的这是众所皆知的，然而让人惊奇的是，有一些婴儿宝宝的血却是白的，这太让人震惊了。虽然不知道是什么原因，但这种情况肯定是不正常的。婴儿血液乳白色是怎么回事，血乳白色究竟得的是什么病？

郑州一个刚出生46天的婴儿血液乳白色的消息引起大家注意。据悉，宝宝的血液是乳白色的是意外发现的，孩子因呛奶引发呼吸急促被送进医院，血液采集时发现婴儿血液呈乳白色， 而且先进的检测仪器测不出任何数据。

医生初步诊断后，认为孩子患上罕见的先天性遗传代谢病。目前面临的窘境是基因检测机构拒检测。今年8月30日，何宝宝出生在郑州一家医院，出生46天左右，因呛奶引发呼吸急促，被送入郑州市儿童医院就诊。“医生让先进行血液采集，采血员惊奇地告知我们，孩子血液呈粉红色，说他们从来没有见过这样的血液，也搞不清楚是什么病症。”

何女士说道。她说自己当时也很惊异，在现场，她看到，静置几分钟后，孩子被采取的血液3/4变成了乳白色，摇晃过之后还是粉色。 第二天，何女士一家带着何宝宝再次赶到儿童医院采血，要求检测血常规。

但是，检测仪器仍测不出血液的任何数据。根据医生建议，何女士赶到郑大第一附属医院，给何宝宝静脉抽血检测血常规。但是，先进的检测仪器仍然测不出任何数据。

在郑大第一附属医院，血液化验科李主任透过显微镜给出了一组数据，孩子血液严重脂血，呈乳糜状。在医生的建议下，医院又通过禁食5小时采血的方式再次检测，也检测不出孩子肝功能和支原体的相关数据。

“求助了郑州的几家大型医院，都检测不出孩子的血液状况。”何女士无奈地说道。10月18日，何女士一家赶到上海新华医院，孩子住进NICU病房。昨日，该院的主治医生说，自己从医20多年，还从来没有见过这样的患儿。

这是一种极为罕见的先天性遗传代谢病，缺乏有效的药物治疗，会导致胰腺炎，黄色瘤等并发症。何女士翻阅各种资料，发现网上曾有4篇类似报道。她一一联系报道涉及的医院的主治医生，得知有3例通过换血进行治疗，其中一名患儿在换血后再次复发，血液仍呈现粉红色。另外1名患儿在经过换血后再未与医院联系。另有一名患儿通过食疗，现在2岁半身体正常。

目前，上海新华医院还有一个有同样症状的患儿。这个患儿来自常州，7月患病。今年9月，西安发现一例同样病情的患儿，换血治疗后，症状有所缓解。

“新华医院的专家说，加上何宝宝，全国目前只有6例这样的患儿。”何女士说道。医生诊断说，何宝宝患的是一种先天性遗传代谢病高脂血症，血液中甘油酸酯和胆固醇等含量高于普通人数倍乃至数十倍。

“医生说，常规的生化检测不出病因，唯一的途径就是通过基因检测。”何女士告诉记者。

新华医院的医生联系了国内3家比较权威的基因检测机构，请求对孩子的基因进行相关检测，但均遭到拒绝。“这些检测机构的医生说这个病太罕见了，基因检测机构也没办法查出病因。新华医院现在还在努力联系检测机构。”何女士说道。

遗传代谢病遗传代谢病就是有代谢功能缺陷的一类遗传病，病因是维持机体正常代谢所必需的某些由多肽和(或)蛋白组成的酶、受体、载体及膜泵生物合成发生遗传缺陷，即编码这类多肽(蛋白)的基因发生突变。

该病又称遗传代谢异常或先天代谢缺陷。一部分病因由基因遗传导致，还有一部分是后天基因突变造成。医生称，该病症目前比较罕见，很难完全治愈。

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