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
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！ |
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
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