LIVER-TRANSPLANTATION IN CHILDREN WITH ALAGILLE SYNDROME - A STUDY OF12 CASES

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 hepa tic form of Alagille syndrome. All children presented with cholestatic jaundice from birth, peculiar facies, stenosis of the peripheral pulm onary artery, and posterior embryotoxon; butterfly-like vertebrae were present in 9 children, At the time of transplantation (mean age 7 yea rs 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 mu mol/L and total serum cholesterol from 3.5 t o 29 mmol/L, Systolic right ventricular pressure was moderately raised (36 to 48 mmHg) in 5 children; mean creatinine clearance was 99 ml/mi n/1.73 m(2), Histologic examination of the removed livers showed cirrh osis, severe annular fibrosis, and moderate portal fibrosis in 4 child ren 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 grow th 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 crea tinine clearance is 101 ml/min/1.73 m(2). These results indicate that the quality of life can be considerably improved after liver transplan tation in children with a severe hepatic form of Alagille syndrome and suggest that it could be carried out before these children attend ele mentary school.