Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy,☆☆,

Presented at the American Gastroenterological Association meeting, New Orleans, May 1994, and published in abstract form (Gastroenterology 1994;106[4, Pt 2]:A907).
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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. Design: Cohort. Setting: 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. (J PEDIATR 1995;127:220-4)

Section snippets

Study design

To characterize outcome of sPILBD in children, we reviewed charts of all children with this diagnosis who were seen since 1983 by the pediatric gastroenterology and nutrition sections at the three affiliated hospitals of the University of Colorado School of Medicine. These hospitals form a regional referral center for infants and children with liver disease. Therefore this series includes virtually all children with sPILBD in the region.

Inclusion criteria

Patients were considered to have sPILBD if there was

Patient characteristics

Of the 31 subjects identified, 2 had other diagnoses (1 chronic cholestasis of unknown origin, 1 prune-belly syndrome) and complete medical records were not available for 3. Each of the 26 index patients had been examined for obstructive jaundice in the first months of life. None of the subjects were related. Patients generally were seen several times a year by the attending physician. Five patients with minimal symptoms were seen less frequently than yearly. Outcome as of April 15, 1994, was

DISCUSSION

This study differs from previous ones in several ways. First, the probability of long-term transplant-free survival of approximately 50% of the patients in this series indicates a worse prognosis than did previous follow-up studies. Because only index patients (i.e., those seen for evaluation of obstructive jaundice in infancy), were selected our cohort may represent a more severe form of disease than that reported by Alagille et al.,2 in which family members with features of sPILBD were

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From the Section of Pediatric Gastroenterology and Nutrition, Pediatric Liver Center, Department of Pediatrics, University of Colorado School of Medicine and the Children's Hospital, Denver

☆☆

Reprint requests: Edward J. Hoffenberg, MD, Section of Pediatric Gastroenterology and Nutrition, Box B290, Children's Hospital, 1056 East 19th Ave., Denver, CO 80218.

0022-3476/95/$3.00 + 0 9/20/64694

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