Integrated Traditional Chinese and Western Medicine in the Treatment of Biliary Cholestatic Liver Disease in an Infant with ABCB4 Gene Mutation: A Case Report

Aixia Peng, Yufeng Lu

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¹ Dongguan Polytechnic, Dongguan 523808, Guangdong, China,

² Guangzhou Medical University, Guangzhou 511436, Guangdong, China,

JCNR 2025 , 9(11), 117–125; https://doi.org/10.26689/jcnr.v9i11.11587

© 2025 by the Authors. Licensee Whioce Publishing, Singapore. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )

Abstract

Objective: To summarize the clinical manifestations, gene mutation type, treatment, and follow-up results of one admitted infant with biliary cholestatic liver disease caused by ABCB4 gene mutation, so as to improve the understanding of this rare disease. Methods: A retrospective analysis was conducted on the clinical manifestations, laboratory examinations, gene mutation type, treatment, and follow-up data of one infant with biliary cholestatic liver disease caused by ABCB4 gene mutation. Results: The patient was a 1 month 23-day old male infant. His main clinical manifestations included dark yellow skin, rash, and pruritus. The disease onset was early, and his serum gamma-glutamyl transpeptidase level was elevated. Genetic analysis revealed two newly identified point mutations in the ABCB4 gene, namely c.1576G > A and c.2596A > G heterozygotes, which were inherited from his father. The infant was cured after treatment with integrated traditional Chinese and Western medicine, and no recurrence was observed during a 6-month follow-up. Conclusion: This study reports a case of biliary cholestatic liver disease caused by ABCB4 gene mutation in an infant, which expands the mutation spectrum of the ABCB4 gene. It also provides a reference for the early diagnosis and treatment of this rare disease using integrated traditional Chinese and Western medicine.

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