Pulmonary hypertension as a manifestation of mitochondrial disease: A case report and review of the literature.
Pulmonary hypertension as a manifestation of mitochondrial disease: A case report and review of the literature.
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DOI：
10.1097/md.0000000000008716
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发表时间：
2017-11
期刊：
影响因子：
1.6
通讯作者：
Zhang R
中科院分区：
文献类型：
--
作者：
Xu S;Xu X;Zhang J;Ying K;Shao Y;Zhang R
线粒体疾病是一组由线粒体呼吸链病理性功能障碍引起的多系统异质性疾病。广泛的临床表现已被描述。然而，直到过去十年，肺动脉高压很少被描述为与线粒体疾病相关，并且目前没有公认的治疗肺动脉高压并发线粒体疾病的方法。我们报告一位十五岁的男孩，因感冒后出现呼吸急促及运动受限，经右心导管检查证实为肺动脉高压。其他检查，如血液检查、高分辨率胸部计算机断层扫描和肺功能检查，排除了其他相关疾病作为肺动脉高压的原因。初步诊断为特发性肺动脉高压，给予血管扩张剂（曲前列尼尔）注射。然而，呼吸困难和疲劳随后加重。追溯家族史，结合肌电图、神经传导检查及肌肉活检结果，证实为线粒体疾病。经维生素E、维生素B2、ATP和辅酶Q10治疗后，患者病情好转。肺动脉高压应被认为是线粒体疾病的另一种潜在表现。肺动脉高压合并线粒体疾病的机制和治疗尚不清楚。需要进一步研究。
Mitochondrial diseases are a group of multisystem heterogeneous diseases caused by pathologic dysfunction of the mitochondrial respiratory chain. A wide range of clinical expression has been described. However, pulmonary hypertension has rarely been described in association with mitochondrial disease until the past decade, and there is no currently recognized treatment for the pulmonary hypertension complicated with mitochondrial disorder. We reported the case of a 15-year-old boy who presented with shortness of breath and exercise limitation after a cold, and the diagnosis of pulmonary hypertension was confirmed by right heart catheter. Other examinations, such as blood tests, high- resolution chest computed tomography scan, and pulmonary function test, excluded other associated diseases as causes of pulmonary hypertension. The initial diagnosis was idiopathic pulmonary arterial hypertension and an injection of vasodilator (Treprostinil) was given. However, the dyspnea and fatigue subsequently got worsened. Tracing back his family history, together with the electromyography, nerve conduction studies, and the result of muscle biopsy, mitochondrial disease was confirmed. After treatment with vitamin E, vitamin B2, ATP, and coenzyme Q10, the patient's condition improved. Pulmonary hypertension should be considered as another potential manifestation of mitochondrial disease. Both mechanism and treatment for pulmonary hypertension complicated with mitochondrial disease are unclear. Further study is necessary.