ArticleBMC pediatrics2025
Prompt distinction of Alagille syndrome and biliary Atresia in infants: a comparative study.
Article in BMC pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- A Rare Coexistence of Biliary Atresia and Alagille Syndrome in a Neonate: Clinical Implications of Dual Etiology in Neonatal Cholestasis.Diagnostics (Basel, Switzerland) · 2026Article
- Early Prediction of Biliary Atresia Using Combi-Elastography in Infants ≤ 60 Days of Age.Diagnostics (Basel, Switzerland) · 2026Article
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3 authors.
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Abstract
BACKGROUND AND
aimsAlagille syndrome (ALGS) is a multisystem disorder that maybe confused with biliary atresia (BA) shortly after birth. This study aimed to identify criteria for early distinction between these two diseases.
methodsPatients with confirmed ALGS and BA were retrospectively enrolled in this study. Clinical data, biochemical results, ultrasound findings, liver histopathology, and genetic testing were analyzed.
resultsA total of 14 patients with ALGS under 3 months of age were included in this study, and compared with 28 age- and sex-matched patients with BA. (1) Clinical features: Significant differences in cardiac structural abnormalities and distinctive facial features were observed. (2) Biochemical indicators: Both groups showed elevated gamma-glutamyl transferase (GGT) levels. The GGT level in the ALGS group was 12.19-fold of the upper limit of normal (ULN), which was lower than that in the BA group (20.60-fold of ULN, P = 0.011). (3) Ultrasonography: ALGS patients had a lower gallbladder abnormality rate (64.3%, 9/14) than BA patients (96.4%, 27/28) (P < 0.05), and the incidence of hepatomegaly and splenomegaly in ALGS patients was significantly lower than that in BA (P < 0.05). (4) Liver histopathology: ALGS patients exhibited a significantly lower prevalence of bile duct proliferation (22.2% vs. 96.4%) and bile plugs (44.4% vs. 92.9%) compared to BA patients (P < 0.05). Additionally, fibrosis or cirrhosis was markedly less common in ALGS patients (11.1% vs. 60.7%, P = 0.019).
conclusionTo effectively distinguish between ALGS and BA in infants under three months of age, clinicians should evaluate cardiac anomalies, distinctive facial features, serum GGT levels, ultrasound findings, and liver histopathology. In diagnostically challenging cases, intraoperative biliary exploration remains essential for timely diagnosis of BA. Genetic testing for JAG1 and NOTCH2 may aid in confirming ALGS when clinical and histological findings are inconclusive.
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