请帮忙救救这个出生才40天的宝宝！

vitamin

从我朋友那里得到的消息，他同事出生才40天的宝宝患了一种罕见的病，现在正寻求各种途径的帮助。

没想到图片竟然不能显示，贴上孩子父母特地做的求助网页：
http://www.helpemer.com/


以下转载的是这位妈妈求助信的部分内容：

上周四小扣子做了腹部CT，结果不好，左肾供血不足，更奇怪的是发现她腹主动脉及分支血管包括肾动脉钙化。目前她的高血压要靠很强的降压药降压。这种病症不应该发生在一个40天大的婴儿身上。医生做了很多检查来排除各种原因，始终没有找到线索，因此最终怀疑是一种叫做“小儿先天性动脉钙化 Idiopathic arterial calcification of infancy”或“特发性动脉钙化”的罕见疾病，这种疾病在国内没有记录，只有少量国外文献有提到。说实话，医生提到的这种疾病，其实类似绝症。 从心脏问题转移到肾脏问题转移到血管问题，真没想到小扣子的病情竟然复杂到连那些有经验的医生都束手无策的地步，现在真的非常需要大家的帮忙了！ 我将小扣子的病历简单描述在此，还有各种检查报告上传上来，请大家帮忙发给或者询问自己所有认识的从医的亲朋好友，国内的国外的，看看能不能找到线索。最大的困惑就是“什么引起了小婴儿的广泛性血管钙化？什么引起了小婴儿高血压？什么引起了小婴儿的心肌肥厚？”我现在真希望听见谁说：“这种情况我见过，是什么什么病，可以如何如何治疗。”无论如何我都不会放弃！请大家帮帮我们！ 我还整理了一份excel，附有小扣子更详细的各种检查报告，留下email，我会最快时间将资料发过去。如果询问到线索，我的邮箱是ciline@qq.com，随时发邮件给我！！也欢迎分享、转载本日志。 病历简述： 孕35周+4早产，出生体重2.4公斤；孕24周发现有妊娠糖尿病； 9天后出院，体重2.1公斤； 15天呼吸急促入院，发生心衰，代谢性酸中毒、低钠血症，有感染迹象，住院期间尿蛋白+++；（祥见D15-D30病历描述） 24天心脏彩超被怀疑心内膜弹力纤维增生，开始持续服用地高辛，肾脏彩超右肾盏疑似沉积物； 30天转院广东省人民医院，体重1.97公斤； 34天动脉穿刺监测血压发现高血压120，持续用降压药； 35天心脏彩超发现心肌肥厚，否定心内弹，停服地高辛； 35天动脉穿刺的桡动脉可能栓塞，紧急拔针，用抗凝剂，发现血液仍高凝状态；抗凝血酶III活性低；（详见D37凝血） 肾脏彩超未发现异常； 37天CT发现左肾供血不足，腹主动脉及其分支广泛性钙化，右肾盂怀疑结石； 目前体重增长良好，吃奶33ml/2h，控制血压后体重增加>50g/D； 目前治疗： 持续用降压药；抗凝血剂；少量抗生素； 医生推断： 血管钙化导致左肾供血不足，肾供血不足导致高血压，高血压导致心肌肥厚；怀疑是一个长期过程，从宫内就开始；" 无法解释：婴儿广泛性血管钙化是由什么引起？婴儿高血压由什么引起？ 所以医生怀疑是一种罕见的疾病叫做“特发性动脉钙化 Idiopathic arterial calcification of infancy”，这种疾病在国内还没有记载，国外能查到少量文献，是由某遗传性隐性基因突变导致，关于此病国外大部分发现是尸检，婴儿的突然死亡如心肌梗死和颅内出血，大多患儿在6个月内死亡，也有极少例存活，有到11岁、25岁，甚至有一例说血管钙化已完全逆转； English Version The case: The mother was diagnosed with gestational diabetes mellitus at 24 weeks of pregnancy; A female baby was born at 35 weeks of gestation, birth weight 2.4Kg; The baby was released from hospital at 9 days of age, weighed 2.1Kg; The baby developed respiratory distress at 15 days of age and was immediately re-admitted to hospital, then she developed heart failure, metabolic acidosis, hyponatraemia, with signs of affection and urokinase protein level of +++; She was suspected with Endocardial Fibroelastosis (EFE) at 24 days of age following a heart scan, continually treated with digoxin, and was suspected with deposits in her right renal pelvis following a kidney scan; She was transferred to Guangdong General Hospital at 30 days of age, weighed 1.97Kg; She was discovered with hypertension of 120 by arteriopuncture at 34 days of age, and was continually treated with antihypertensive drugs; She was diagnosed with Hypertrophic Cardiomyopathy instead of Endocardial Fibroelastosis (EFE) at 35 days of age, therefore digoxin was discontinued; She was suspected with embolized radial artery (the punctually monitored one) at 35 days of age, therefore arteriopuncture was urgently discontinued, and started receiving treatment with gelation inhibitor, however her blood is still in a hypercoagulative state, antithrombin III activity was low; No abnormality was found in renal scan; It was found following a CT scan that she had circulation insufficiency in her left renal, her abdominal artery and its branches had generalized calcification when she was 37 days old, and it was suspected that there were stones in her right renal pelvis; Weight gaining is fine currently; milk taking: 33ml/2h, weight increase: >50g/D with hypertension control; Current treatment: Continually using antihypertensive drugs, gelation inhibitor and low dose of antibiotics; Doctor’s deduction: Arterial calcification caused circulation insufficiency in her left renal, which caused hypertension, which caused Hypertrophic Cardiomyopathy; it is suspected to have been a long process, started before birth; Remaining questions: What has caused generalized arterial calcification? What has caused her hypertension? Therefore, the doctor suspects that it is a very rare disease named “Idiopathic Arterial Calcification of Infancy”, which has never been recorded in Chinese medical literature. There are few cases reported in foreign medical literature. Idiopathic infantile arterial calcificationI (IIAC) is a rare disorder characterized by calcium deposition in the internal elastica lamina of medium and large arteries and it has been defined in term of molecular genetics. It is usually fatal, approximately 85% of all patients die within the first months of life owing to ischemia of vital organs. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with electrocardiogram (ECG) changes of occlusive coronary artery disease suggests the diagnosis. It is caused by mutations in the ENPP1 gene localized on chromosome 6q22 and has OMIM number 208000. A search of the English language medical literature identified 161 IIAC case reports. Of these, 48% of cases presented in utero or at birth with hydrops fetalis, maternal hydramnios, heart failure, or respiratory distress and 52% present later, at a median age of 3 months, with sudden onset of fever, vomiting, irritability, or respiratory distress in a previously healthy infant. Significantly, 19 of 22 IIAC survivors presented at less than 2 weeks of age, and 15 survivors were treated with diphosphonates. However, some patients survived to adulthood, of whom some had complete resolution of arterial calcification. 更多血液、尿液检查试验报告我整理了excel，需要的留下email，我最快时间发过去！我的邮箱是ciline@qq.com，有线索的话随时给我邮件！

孩子的家在深圳，现在正焦虑万分，四处寻找可以治病的方法。我现在在国内，可惜也并不认识什么医生或者医学界的朋友。 希望在德国有线索或者认识不错的儿科医院或者医生的妈妈帮忙推荐一下，可以站内短我或者跟帖，发给患儿妈妈也可以，最好能提供相关专家的联系方式，或者相关的德国医学论坛。没有线索也请帮忙顶顶贴，让更多的人能看到这封求助信。
可怜天下父母心，在此谢谢大家了！

轻轻她妈

笑对人生

真假难辨。

vitamin

难怪有人说慕尼黑是最冷漠的城市。
已经从别的论坛上得到了帮助，现在也已经和相关医院联系上了。
不相信的可以去Google一下，很多论坛都有同样的消息，孩子的父母在发动几乎所有的社会关系来帮忙寻找可能的治疗。如果不是萍聚被屏蔽，也不会放到这里。
求助信里没有一个字提到过钱或者捐款之类的东西，需要的甚至只是一个医院的名称，也不需要任何的个人信息，需要的甚至只是一个顶贴或跟帖，怎见得就是骗子了？！
放在另一个版面的帖子居然一声不吭就被删除，放在这里的帖子两天几乎无人问津。
自问不是一个爱管闲事的人，也没有做母亲，但是看到那个年轻母亲几近绝望的求助，也不禁动了恻隐之心。
当你们的宝宝生病的时候，难道不焦急，难道不努力地寻找治疗，难道也是这么无动于衷？
是不是人在慕尼黑，心肠也会变得硬起来？

轻轻她妈

唉，这也不能怪人家，现在这苦命滴人啊实在太多，这救济，俺们也是杯水车薪啊！

蓝帝狮

难怪有人说慕尼黑是最冷漠的城市。
已经从别的论坛上得到了帮助，现在也已经和相关医院联系上了。
不相信的 ...
vitamin 发表于 2.4.2010 08:18

顶贴
也很同情这宝宝，希望她早日康复。
更佩服你的热心
要说慕尼黑的人冷漠，我不同意你的观点。能帮上的忙，我想不会有人吝啬伸出援助之手的

songjiang

先赞你的为人和善行，我们敬佩你！
作为一个母亲，我能理解孩子得病后，母亲的心痛。
确实你的求助，能为刚出生40天就患有这么严重疾病的孩子找到希望是多么的重要。不管现在如何，在德国还是有很多医学才子和医学信息广泛的好心人，希望拿出你们的一点点时间，一起去救助这个焦急的家庭。救人一命，现在或将来你会为你的善举而心存自豪的。
另外，美国的医学方面有很多疑难病症的先进经验，也建议你在美国的 医学网上求助。祝你好运能帮到你的朋友！

jasminearbeit

回复 4# vitamin

顶

    还是会有好人的， 我也帮忙顶一下， 希望更多的人能看到帖子， 来帮忙

零下68度

帮顶啊！希望宝宝早日恢复健康！

xiaojing

不是慕尼黑的人比较冷漠，是我们根本就无能为力。慕尼黑的医学院本来招收的中国人就很少，几乎没有，而且他们的课程很多，有时间上网，也不一定上这个妈妈宝宝的板块。