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 un...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.展开更多
基金Key Project of School-Level Fund of Dongguan Polytechnic:“Exploring the Role and Molecular Mechanism of Astragalus membranaceus in Preventing and Treating Bronchopulmonary Dysplasia through Its‘Qi-Invigorating’Function Based on the HMGB1/RAGE/TLR4 Signaling Pathway”(Project No.:2024a07)。
文摘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.
