OUTCOME OF SYNDROMIC PAUCITY OF INTERLOBULAR BILE-DUCTS (ALAGILLE SYNDROME) WITH ONSET OF CHOLESTASIS IN INFANCY

Objective: To determine the outcome, in index patients followed at an American Center, of syndromic paucity of interlobular bile ducts (sPIL BD; Alagille syndrome), with onset of cholestasis in infancy. Design: Cohort. Setting Regional referral center for infants and children with liver disease. Results: During the past 10 years, 26 unrelated childr en with sPILBD were identified. Fifteen (58%) are alive without liver transplantation at a median age of 12.1 years, Three (11%) died, all b efore 2 years of age. Eight patients (31%) underwent liver transplanta tion at a median age of 6.5 years; all eight are alive a median 5.4 ye ars after transplantation. The most common factors contributing to the decision for transplantation were bone fractures, pruritus, and sever e xanthoma, The predicted probability of reaching 19 years of age with out transplantation is about 50%; however, with transplantation, the p redicted probability of long-term survival is 87%. Of 26 patients, 4 ( 15%) have had significant central nervous system disease, and two of t hem have died of intracranial hemorrhage, Of the four patients who und erwent cholecystoportostomy or portoenterostomy, three required liver transplantation. Conclusions: Children with sPILBD identified in infan cy because of cholestasis have a 50% probability of long-term survival without liver transplantation, a worse prognosis than other follow-up studies have reported. In selected patients, liver transplantation pr ovides the opportunity for long-term survival with improved quality of life. Patients with sPILBD are at risk of having intracranial hemorrh age.