Ozçay F, Alehan F, Sevmiş S, Karakayali H, Moray G, Torgay A, Arslan G, Haberal M
Department of Pediatric Gastroenterology, Faculty of Medicine, Başkent University, Ankara, Turkey.
Transplant Proc. 2009 Sep;41(7):2875-7. doi: 10.1016/j.transproceed.2009.07.025.
Four children underwent living related liver transplantation because of Crigler-Najjar syndrome type 1. Three were infants aged 2, 8(1/2), and 15 months, and weighed 5, 8, and 10 kg, respectively. Pretransplantation unconjugated bilirubin concentration was 22 to 30 mg/dL despite 12 to 14 hours of phototherapy daily. Patient 1, the 2-month-old infant, with unconjugated bilirubin concentration of 30 mg/dL, had a high-pitched cry, suggestive of bilirubin encephalopathy; results of neurologic examination were normal. Plasmapheresis and urgent liver transplantation were performed. Patient 4, a 13-year-old girl, had learning difficulties at school and attended a special class. Three patients received left lateral liver segments, and 1 patient received a left lobe. Biliary reconstruction was completed with duct-to-duct anastomosis. Bile leakage developed at the anastomosis in 2 patients, which was treated successfully with cholangioplasty. In all patients, the unconjugated bilirubin concentration normalized by day 1 posttransplantation, and no phototherapy was necessary. After transplantation, the 2-month-old infant with suspected encephalopathy exhibited hypotonia, spasticity of the lower extremities, and lack of head control. He died after vomitus aspiration during sleep at 10 months posttransplantation. The other 3 patients are alive with normal neurodevelopmental milestones. Irreversible brain damage may occur early in the course of Crigler-Najjar syndrome type 1. Urgent treatment including plasmapheresis, exchange transfusion, phototherapy, and liver transplantation may not reverse brain damage. Young infants must be evaluated carefully for subtle signs and symptoms of bilirubin encephalopathy. Liver transplantation is curative if performed before development of neurologic dysfunction.
4名儿童因1型克里格勒 - 纳贾尔综合征接受了活体亲属肝移植。其中3名是婴儿，年龄分别为2个月、8个半月和15个月，体重分别为5千克、8千克和10千克。尽管每天进行12至14小时的光疗，但移植前未结合胆红素浓度仍为22至30mg/dL。患者1为2个月大的婴儿，未结合胆红素浓度为30mg/dL，哭声高亢，提示胆红素脑病；神经系统检查结果正常。进行了血浆置换和紧急肝移植。患者4是一名13岁女孩，在学校有学习困难，就读于特殊班级。3名患者接受了左外叶肝段移植，1名患者接受了左叶移植。胆管重建通过胆管对胆管吻合完成。2名患者在吻合口处出现胆漏，经胆管成形术成功治疗。所有患者在移植后第1天未结合胆红素浓度恢复正常，无需光疗。移植后，疑似脑病的2个月大婴儿出现肌张力减退、下肢痉挛和头部控制能力缺失。他在移植后10个月睡眠中因呕吐物误吸死亡。其他3名患者存活，神经发育里程碑正常。1型克里格勒 - 纳贾尔综合征病程早期可能发生不可逆脑损伤。包括血浆置换、换血疗法、光疗和肝移植在内的紧急治疗可能无法逆转脑损伤。必须仔细评估幼儿是否有胆红素脑病的细微体征和症状。如果在神经功能障碍发生前进行肝移植可治愈。
