Etiology and clinical characteristics of infantile cholestasis: a single-center retrospective study of 326 cases

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: = 0.002 for GGT), with no other significant differences between the two subgroups. 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.