Dubern B, Broue P, Dubuisson C, Cormier-Daire V, Habes D, Chardot C, Devictor D, Munnich A, Bernard O
Services d'Hépatologie, de Chirurgie et de Réanimation Pédiatriques, H pital Bicêtre, Le Kremlin-Bicêtre, France.
Transplantation. 2001 Mar 15;71(5):633-7. doi: 10.1097/00007890-200103150-00009.
Liver involvement in mitochondrial respiratory chain disorders (MRCD) frequently ends in liver failure and death. Because of the high risk of extrahepatic, particularly neuromuscular, manifestations of the disease, the indication of orthotopic liver transplantation (OLT) in these patients remains controversial. We report on 5 such children in whom OLT was carried out, in an attempt to help clarify the matter.
Patients 1 and 2 presented with fulminant liver failure at ages 7 and 6 months respectively. Emergency liver transplantation was performed before etiological investigations were completed. Retrospective examination of the explanted livers showed defects in complexes I, III and IV. In patient 1, severe neurological deterioration occurred 2 months after OLT with fatal outcome 9 months later. Patient 2 is alive 22 months after OLT with moderate motor impairment. Patients 3, 4 and 5 presented with progressive liver failure before 6 months of age. Surgical liver biopsies displayed a 50% defect in complex IV (patient 3), a defect in complexes I, IV (patient 4) and in complexes I, III, IV (patient 5). Because there was no clinical extrahepatic involvement on investigations, OLT was carried out in these patients. Patient 3 died of multiple organ failure soon after OLT, patients 4 and 5 are alive respectively 21 months and 12 months after OLT with normal neurological examination.
OLT may be a valid therapeutic option in infants with delayed liver cell failure due to MRCD, only after performing in emergency a thorough inves tigation to exclude clinically significant extrahepatic, especially neuromuscular, involvement.
肝脏受累于线粒体呼吸链疾病（MRCD）常导致肝衰竭和死亡。由于该疾病肝外尤其是神经肌肉表现的高风险，原位肝移植（OLT）在这些患者中的应用指征仍存在争议。我们报告5例接受OLT的此类患儿，旨在帮助阐明这一问题。
患者1和患者2分别在7个月和6个月大时出现暴发性肝衰竭。在病因学检查完成之前就进行了紧急肝移植。对切除肝脏的回顾性检查显示复合体I、III和IV存在缺陷。患者1在OLT后2个月出现严重神经功能恶化，9个月后死亡。患者2在OLT后22个月存活，有中度运动障碍。患者3、4和5在6个月龄前出现进行性肝衰竭。手术肝活检显示复合体IV有50%的缺陷（患者3），复合体I、IV有缺陷（患者4），复合体I、III、IV有缺陷（患者5）。由于检查未发现临床肝外受累，这些患者接受了OLT。患者3在OLT后不久死于多器官衰竭，患者4和5在OLT后分别存活21个月和12个月，神经检查正常。
对于因MRCD导致肝细胞衰竭延迟的婴儿，OLT可能是一种有效的治疗选择，但前提是在紧急情况下进行全面检查以排除临床上显著的肝外尤其是神经肌肉受累。
