ArticleFrontiers in pediatrics2026
Etiology and clinical characteristics of infantile cholestasis: a single-center retrospective study of 326 cases.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To retrospectively investigate the clinical characteristics and etiological spectrum of infantile cholestasis, with an emphasis on evolving diagnostic approaches. Methods: Clinical data of 326 infants diagnosed with infantile cholestasis at the Children's Hospital Affiliated to Shandong University from January 2020 to December 2025 were retrospectively analyzed. Etiological distribution was systematically examined. Serum bile acid profiling was performed for suspected bile acid synthesis defects, and genetic sequencing for unexplained or suspected genetic cholestasis. Results: Among 326 infants with infantile cholestasis, 56.7% presented with light- or clay-colored stools, 62.9% had hepatomegaly, and 8.3% had comorbidities. The etiological spectrum included biliary tract anomalies [50.6%, including 161 biliary atresia (BA)], genetic metabolic liver diseases (9.8%, Conclusion: The etiology of infantile cholestasis is complex and highly heterogeneous. Genetic testing improves the diagnostic yield of inherited metabolic liver diseases. Serum bile acid profiling provides metabolomic signatures for etiological differentiation. Conventional liver function tests combined with serum MMP-7 represent a simple, reliable, noninvasive approach for early differentiation of biliary atresia.
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