Flye M W, Riely C A, Hainline B E, Sassa S, Gusberg R J, Blakemore K J, Barwick K W, Horwich A L
Department of Surgery, Washington University School of Medicine, St. Louis, Missouri 63110.
Transplantation. 1990 May;49(5):916-21. doi: 10.1097/00007890-199005000-00017.
Two infants with hereditary tyrosinemia secondary to fumarylacetoacetate hydrolase (FAH) deficiency underwent orthotopic liver transplantation at 14 and 16 weeks of age due to poor clinical and biochemical response to medical therapy. Prompt clearance of abnormal metabolites with improved mental alertness and appetite occurred with minimal perioperative complications. Both infants tolerated rapid institution of normal diets and have shown progressive growth and development in the first 36 months after transplantation. Early liver transplantation should be considered as an option for infants with certain inherited metabolic disorders with poor prognosis, such as tyrosinemia type I, who fail to respond to medical therapy.
两名因富马酰乙酰乙酸水解酶（FAH）缺乏继发遗传性酪氨酸血症的婴儿，由于对药物治疗的临床和生化反应不佳，分别在14周和16周龄时接受了原位肝移植。异常代谢产物迅速清除，精神警觉性和食欲改善，围手术期并发症极少。两名婴儿都能耐受快速恢复正常饮食，并且在移植后的头36个月里呈现出持续的生长发育。对于某些预后不良的遗传性代谢疾病婴儿，如对药物治疗无反应的I型酪氨酸血症，应考虑早期肝移植作为一种选择。
