一个患有糖尿病和心力衰竭的家庭。
A family with diabetes and heart failure.
作者信息
Gerber Bernhard, Manser Christine, Wiesli Peter, Meier Christoph A
机构信息
Hematology Clinic, University Hospital Zurich, Zurich, Switzerland.
出版信息
BMJ Case Rep. 2010 Oct 18;2010:bcr0120102613. doi: 10.1136/bcr.01.2010.2613.
Abstract
The case of a middle-aged woman with early-onset diabetes mellitus, hypertrophic cardiomyopathy, premature sensorineural hearing loss and neuropsychiatric symptoms is described. The patient's family history revealed the classical pattern of maternally inherited diabetes and deafness (MIDD) and isolation of mitochondrial DNA from peripheral blood leucocytes showed an A3243G transition in the gene encoding for the tRNA(Leu(UUR)). Thus, the suspected diagnosis of a mitochondrial disorder was confirmed. Cardiac involvement turned out to be the dominating clinical feature in the patient. She died of cardiogenic shock and multiple organ failure within 1 year of diagnosis. Three out of nine affected family members had hypertrophic cardiomyopathy.
摘要
本文描述了一位患有早发型糖尿病、肥厚型心肌病、早发性感音神经性听力损失和神经精神症状的中年女性病例。患者的家族史显示出母系遗传糖尿病和耳聋（MIDD）的典型模式，从外周血白细胞中分离出线粒体DNA，结果显示编码tRNA（Leu（UUR））的基因发生了A3243G转换。因此，线粒体疾病的疑似诊断得到了证实。心脏受累是该患者的主要临床特征。她在确诊后1年内死于心源性休克和多器官衰竭。九名受影响的家庭成员中有三人患有肥厚型心肌病。
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