A case of early diagnosed carnitine deficiency presenting with respiratory symptoms
A case of early diagnosed carnitine deficiency presenting with respiratory symptoms
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DOI：
10.1159/000107675
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发表时间：
2007-01-01
影响因子：
3.9
通讯作者：
Dolunay, Gulderen
中科院分区：
文献类型：
--
作者：
Erguven, Muferet;Yilmaz, Oznur;Dolunay, Gulderen
前言：肉碱缺乏症是一种常染色体隐性遗传性疾病，其特征是血浆和组织中肉碱浓度低。原发性肉碱缺乏(PCD)是由细胞膜肉碱转运蛋白缺乏引起的，尿肉碱损耗导致全身肉碱耗竭。PCD最常见的表现是低酮症低血糖脑病。心肌病也可见。病例报告：1例9个月大的女婴因喘息、呼吸窘迫和夜间咳嗽入院。她面色苍白，外翻时间延长，双侧呼吸声音粗哑，右侧胸腔增大。结果：患者患有低色素性小细胞性贫血，血清CPK水平升高。心胸指数增加(0.62)。胸部X线片可见左肺上段充气过多，右肺心包旁受累。超声心动图显示扩张型心肌病。核素肺灌注扫描显示右肺血流灌注率为26%，左肺为74%。MR血管成像可见主肺动脉增大、扩张。血浆肉碱和酰肉碱水平显著降低。肌肉活检发现心肌细胞内脂肪堆积和罕见的萎缩纤维。口服肉碱开始剂量为100 mg/kg。所有的症状和发现都在短时间内消退。讨论：提出此病例是为了强调肉碱缺乏会出现呼吸道症状，如喘息和反复呼吸道感染。虽然PCD在婴儿中通常表现为低酮症低血糖，但在扩张型心肌病的病因中也必须怀疑它。一旦做出正确的诊断，治疗非常容易和挽救生命，终生补充肉碱的预后良好。版权所有(C)2007 S.Karger AG，巴塞尔。
Introduction: Carnitine deficiency is an autosomal recessively inherited disease characterized by a low carnitine concentration in plasma and tissues. Primary carnitine deficiency (PCD) is caused by a deficiency in the plasma membrane carnitine transporter, with urinary carnitine wasting causing systemic carnitine depletion. The most common presentation of PCD is hypoketotic hypoglycemic encephalopathy. Cardiomyopathy can also be seen. Case Report: A 9-month-old girl was admitted to our clinic with wheezing, respiratory distress and nighttime cough. She was pale, expirium was prolonged, breath sounds were coarse bilaterally and were increased in the right hemithorax. Results: She had hypochromic microcytic anemia and the serum CPK level was elevated. Cardiothoracic index was increased (0.62). In the chest X-ray there was hyperaeration especially in the upper regions of the left lung, and paracardiac infiltration in the right lung. The echocardiogram showed dilated cardiomyopathy. In pulmonary perfusion scintigraphy, perfusion of the right lung was 26% and of the left lung 74%. Cardiomegaly and dilatation in main the pulmonary artery was detected in the MR angiogram. Plasma carnitine and acylcarnitine levels were found to be significantly low. Fat accumulation in myocytes and rare atrophic fibers were detected in a muscle biopsy. Oral carnitine supplementation was started at a dose of 100 mg/kg. All the symptoms and findings regressed within a short period of time. Discussion: This case was presented to emphasize that carnitine deficiency can present with respiratory tract symptoms like wheezing and recurrent respiratory tract infections. Although PCD usually presents with hypoketotic hypoglycemia in infants, it also has to be suspected in the etiology of dilated cardiomyopathy. Treatment is very easy and lifesaving once the correct diagnosis is made, and the prognosis is excellent with lifelong carnitine supplementation. Copyright (c) 2007 S. Karger AG, Basel.