Cardona J, Houssin D, Gauthier F, Devictor D, Losay J, Hadchouel M, Bernard O
INSERM U 347, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Transplantation. 1995 Aug 27;60(4):339-42. doi: 10.1097/00007890-199508270-00007.
Cholestasis associated with Alagille syndrome may, in a few cases, be extremely severe and result in major impairment in the quality of life during early childhood and end up in cirrhosis eventually. We report the results of liver transplantation in 12 children with a severe hepatic form of Alagille syndrome. All children presented with cholestatic jaundice from birth, peculiar facies, stenosis of the peripheral pulmonary artery, and posterior embryotoxon; butterfly-like vertebrae were present in 9 children. At the time of transplantation (mean age 7 years 10 months) refractory pruritus was present in 9 children, xanthoma in 11, and height and weight retardation in 11. Total serum bilirubin ranged from 116 to 322 mumol/L and total serum cholesterol from 3.5 to 29 mmol/L. Systolic right ventricular pressure was moderately raised (36 to 48 mmHg) in 5 children; mean creatinine clearance was 99 ml/min/1.73 m2. Histologic examination of the removed livers showed cirrhosis, severe annular fibrosis, and moderate portal fibrosis in 4 children each. Follow-up in the 11 survivors has ranged from 14 months to 5 1/2 years. All lead normal lives. Pruritus and xanthomas disappeared. Increase in height was observed in 8 of the 10 survivors who had growth retardation prior to transplantation. School level is normal in 4 (median age at LT: 5 yr 9 mo) and below normal in 6 (median age at OLT: 9 yr 9 mo). Liver function tests are normal in 10 children. Mean creatinine clearance is 101 ml/min/1.73 m2. These results indicate that the quality of life can be considerably improved after liver transplantation in children with a severe hepatic form of Alagille syndrome and suggest that it could be carried out before these children attend elementary school.
与阿拉吉耶综合征相关的胆汁淤积在少数情况下可能极其严重，导致幼儿期生活质量严重受损，并最终发展为肝硬化。我们报告了12例严重肝脏型阿拉吉耶综合征患儿的肝移植结果。所有患儿自出生起均出现胆汁淤积性黄疸、特殊面容、外周肺动脉狭窄和后胚胎环；9例患儿存在蝴蝶椎。移植时（平均年龄7岁10个月），9例患儿有难治性瘙痒，11例有黄色瘤，11例有身高和体重发育迟缓。血清总胆红素范围为116至322μmol/L，血清总胆固醇范围为3.5至29mmol/L。5例患儿收缩期右心室压力中度升高（36至48mmHg）；平均肌酐清除率为99ml/min/1.73m²。切除肝脏的组织学检查显示，4例患儿有肝硬化、严重环状纤维化和中度门脉纤维化。11名幸存者的随访时间为14个月至5年半。所有人都过着正常生活。瘙痒和黄色瘤消失。10例移植前生长发育迟缓的幸存者中有8例身高增加。4例（肝移植时中位年龄：5岁9个月）学业水平正常，6例（肝移植时中位年龄：9岁9个月）低于正常水平。10例患儿肝功能检查正常。平均肌酐清除率为1ml/min/1.73m²。这些结果表明，严重肝脏型阿拉吉耶综合征患儿肝移植后生活质量可得到显著改善，并提示可在这些患儿上小学前进行肝移植。
