Pulmonary hypertension in a child with mitochondrial A3243G point mutation
Pulmonary hypertension in a child with mitochondrial A3243G point mutation
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DOI：
10.1016/j.braindev.2012.02.011
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发表时间：
2012-11-01
影响因子：
1.7
通讯作者：
Ro, Long-Sun
中科院分区：
文献类型：
--
作者：
Hung, Po-Cheng;Wang, Huei-Shyong;Ro, Long-Sun
线粒体疾病是一组由线粒体呼吸链的病理性功能障碍引起的疾病，具有广泛的临床表现。呼吸系统并发症以前曾被描述为与线粒体疾病相关;然而，肺动脉高压很少被报道。肺动脉高压的特征是肺动脉压升高和继发性右心室衰竭。这是一种危及生命的疾病，如果不治疗，预后不良。我们报告一个3岁4个月的男孩谁有线粒体A3243 G点突变肺动脉高压。我们病例的不寻常特征加强了肺动脉高压的概念，应该被认为是线粒体的另一种潜在表现！疾病(C)2012年日本儿童神经病学学会。Elsevier B. V.出版，保留所有权利。
Mitochondrial diseases are a group of disorders caused by pathologic dysfunction of the mitochondrial respiratory chain that present with a wide range of clinical expression. Cardiorespiratory complications have previously been described in association with mitochondrial disease; however, pulmonary hypertension has rarely been reported. Pulmonary hypertension is characterized by elevated pulmonary arterial pressure and secondary right ventricular failure. It is a life-threatening condition with a poor prognosis if untreated. We report a case of 3-year-4-month-old boy who had mitochondrial A3243G point mutation with pulmonary hypertension. The unusual features of our case strengthen the concepts of pulmonary hypertension should be considered as another potential manifestation of mitochondria! disease. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.