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
The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficie...The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficiency was associated with several cholestatic disorders,but the pathogenesis is not clear.This review highlights recent advances in the structure and function of ABCB4 gene,and the relationship between ABCB4 gene and cholestatic diseases.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.
文摘The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficiency was associated with several cholestatic disorders,but the pathogenesis is not clear.This review highlights recent advances in the structure and function of ABCB4 gene,and the relationship between ABCB4 gene and cholestatic diseases.
