title: Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy.
abstract: OBJECTIVE
  To determine the outcome, in index patients followed at an American Center, of syndromic paucity of interlobular bile ducts (sPILBD; Alagille syndrome), with onset of cholestasis in infancy.
  
  
  METHODS
  Cohort.
  
  
  METHODS
  Regional referral center for infants and children with liver disease.
  
  
  RESULTS
  During the past 10 years, 26 unrelated children with sPILBD were identified. Fifteen (58%) are alive without liver transplantation at a median age of 12.1 years. Three (11%) died, all before 2 years of age. Eight patients (31%) underwent liver transplantation at a median age of 6.5 years; all eight are alive a median 5.4 years after transplantation. The most common factors contributing to the decision for transplantation were bone fractures, pruritus, and severe xanthoma. The predicted probability of reaching 19 years of age without transplantation is about 50%; however, with transplantation, the predicted probability of long-term survival is 87%. Of 26 patients 4 (15%) have had significant central nervous system disease, and two of them have died of intracranial hemorrhage. Of the four patients who underwent cholecystoportostomy or portoenterostomy, three required liver transplantation.
  
  
  CONCLUSIONS
  Children with sPILBD identified in infancy 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 provides the opportunity for long-term survival with improved quality of life. Patients with sPILBD are at risk of having intracranial hemorrhage.
authors.affiliation: Section of Pediatric Gastroenterology and Nutrition, Children's Hospital, Denver, CO 80218, USA.
authors.forename: E J
authors.initials: EJ
authors.lastname: Hoffenberg
authors.forename: M R
authors.initials: MR
authors.lastname: Narkewicz
authors.forename: J M
authors.initials: JM
authors.lastname: Sondheimer
authors.forename: D J
authors.initials: DJ
authors.lastname: Smith
authors.forename: A
authors.initials: A
authors.lastname: Silverman
authors.forename: R J
authors.initials: RJ
authors.lastname: Sokol
mesh_terms: D016738:Alagille Syndrome / Q000150:complications / Q000401:mortality* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000209:etiology*; D015331:Cohort Studies; D003120:Colorado / Q000453:epidemiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016031:Liver Transplantation; D008297:Male; D011171:Portoenterostomy, Hepatic; D011379:Prognosis; D016019:Survival Analysis; D015996:Survival Rate; D013997:Time Factors