Pulmonary hypertension - A new manifestation of mitochondrial disease
Pulmonary hypertension - A new manifestation of mitochondrial disease
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DOI：
10.1007/s10545-005-4484-x
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发表时间：
2005-12-01
影响因子：
4.2
通讯作者：
Stormon, MO
中科院分区：
文献类型：
--
作者：
Barclay, AR;Sholler, G;Stormon, MO
儿童线粒体呼吸链（RC）异常可表现为多器官疾病，包括肝衰竭，通常发生在出生后的第一年。心肺并发症先前已被描述与RC缺陷相关；然而，据我们所知，没有肺动脉高压的病例被描述。我们讨论了两例证实线粒体RC肝病并发严重肺动脉高压的患者，一例在尸体原位肝移植后，另一例在新生儿期。这是我们的论点，肺动脉高压现在应该包括作为儿科线粒体疾病的另一种潜在表现。
Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.