Goncalves I, Hermans D, Chretien D, Rustin P, Munnich A, Saudubray J M, Van Hoof F, Reding R, de Ville de Goyet J, Otte J B
Service de Pédiatrie, Cliniques St Luc-Université Catholique de Louvain, Bruxelles, Belgium.
J Hepatol. 1995 Sep;23(3):290-4.
Two siblings presented with neonatal cholestasis and early liver insufficiency. The older was admitted for end-stage cirrhosis with severe hypoglycemia and had long-term successful liver transplant at the age of 15 months. The second child presented a similar neonatal history of cholestasis, hypoglycemia, hyperlactacidemia, liver insufficiency and progressive cirrhosis. Extensive work-up excluded all known causes of neonatal cholestasis. Gluconeogenesis was found normal following alanine and fructose infusion. Repeated hypoglycemia with early post-prandial hyperlactacidemia led us to investigate the mitochondrial respiratory chain enzyme activities. Selective defects of complexes I, III and IV, coded by mitochondrial DNA, were detected in liver tissue of this patient and on preserved frozen tissue from his sibling, whilst normal activities were found in liver tissue samples from control patients with end-stage liver diseases. No extrahepatic manifestations were found. We conclude that liver deficiency of mitochondrial respiratory chain enzymes may cause liver disease in neonates, associated with hypoglycemia and post-prandial hyperlactacidemia. The disease is cured by liver transplantation.
两名兄弟姐妹出现新生儿胆汁淤积和早期肝功能不全。年长的患儿因终末期肝硬化伴严重低血糖入院，并在15个月大时成功接受了长期肝移植。第二个孩子有类似的新生儿胆汁淤积、低血糖、高乳酸血症、肝功能不全和进行性肝硬化病史。全面检查排除了所有已知的新生儿胆汁淤积病因。输注丙氨酸和果糖后，糖异生功能正常。反复出现低血糖并伴有餐后早期高乳酸血症，促使我们对线粒体呼吸链酶活性进行研究。在该患者的肝脏组织以及其兄弟姐妹保存的冷冻组织中，检测到由线粒体DNA编码的复合体I、III和IV的选择性缺陷，而在终末期肝病对照患者的肝脏组织样本中发现酶活性正常。未发现肝外表现。我们得出结论，线粒体呼吸链酶的肝脏缺乏可能导致新生儿肝病，并伴有低血糖和餐后高乳酸血症。该疾病可通过肝移植治愈。
