Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy☆,☆☆,★
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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Cited by (161)
Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management
2022, Clinics in Liver DiseaseCitation Excerpt :In the absence of a genetic diagnosis, or a family history of ALGS in a first-degree relative, a clinical diagnosis can be made from clinical findings in 3 out of 7 organ systems (listed below).9 The pattern of hepatic involvement in ALGS is diverse; however, neonatal cholestasis with high gamma-glutamyl transferase (GGT) remains the most common presentation, affecting 80% to 100% of patients.8,10–13 In a large descriptive ALGS cohort study by Subramaniam and colleagues (n = 117), where the most patients were less than 1 year of age, scleral icterus and hepatomegaly were present in approximately 90%, and 70%, respectively.8
Alagille Syndrome
2020, Pediatric Liver TransplantationPediatric Cholestatic Liver Disease
2020, Pediatric Gastrointestinal and Liver Disease, Sixth EditionAlagille Syndrome
2018, Clinics in Liver Disease
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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
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Reprint requests: Edward J. Hoffenberg, MD, Section of Pediatric Gastroenterology and Nutrition, Box B290, Children's Hospital, 1056 East 19th Ave., Denver, CO 80218.
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0022-3476/95/$3.00 + 0 9/20/64694