Lee Way S, Sokol Ronald J
Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
Hepatology. 2007 Jun;45(6):1555-65. doi: 10.1002/hep.21710.
Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases.
肝脏受累是儿童线粒体肝病的常见特征，尤其是在新生儿期。呼吸链疾病可能表现为新生儿急性肝衰竭、肝脂肪性肝炎、胆汁淤积或隐匿性起病的慢性肝衰竭伴肝硬化。近年来，已发现特定的分子缺陷（如SCO1、BCS1L、POLG、DGUOK和MPV17等核基因的突变以及线粒体DNA的缺失或重排），有望实现基因诊断和产前诊断。目前线粒体肝病的治疗大多无效，预后通常较差。由于该疾病具有全身性，对移植无反应，肝移植在肝衰竭患者中的作用仍不明确。需要开展前瞻性、纵向、多中心研究来填补我们对这些罕见肝病认知上的空白。
