ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis:A case report  

作　　者：Na Cheng Yu-Jie Qin Quan Zhang Hong Li 

机构地区：[1]Department of Infectious Diseases,Affiliated Hospital of Guizhou Medical University,Guizhou Medical University,Guiyang 550025,Guizhou Province,China [2]Department of Infectious Diseases,Guizhou Provincial People's Hospital,Guiyang 550025,Guizhou Province,China

出　　处：《World Journal of Clinical Cases》2023年第20期4903-4911,共9页世界临床病例杂志

基　　金：Supported by The Department of Science and Technology of Guizhou Province,No.[2020]1Y299;National Natural Science Foundation of China,No.82060123;National Health Commission of Guizhou Province,No.gzwjk2019-1-082;Doctor Start Fund of Affiliated Hospital of Guizhou Medical University,No.gyfybsky-2021-28;National Natural Cultivation Fund of Affiliated Hospital of Guizhou Medical University,No.Ⅰ-2020-12.

摘　　要：BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.

关 键 词：ABCB4 gene Progressive familial intrahepatic cholestasis 3 CIRRHOSIS Systemic amyloidosis Case report 

分 类 号：R596.1[医药卫生—内科学] R575.2[医药卫生—临床医学] R597.2