Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis:A case report and review of the literature  

作　　者：Jin-Lian Jiang Jiang-Fu Qian De-Hui Xiao Xia Liu Fang Zhu Jie Wang Zhou-Xiong Xing De-Lin Xu Yuan Xue Yi-Huai He 

机构地区：[1]Department of Infectious Diseases,Affiliated Hospital of Zunyi Medical University,Zunyi 563003,Guizhou Province,China [2]Department of Digestion,Dafang County People’s Hospital,Bijie 551600,Guizhou Province,China [3]Department of Intensive Care,Affiliated Hospital of Zunyi Medical University,Zunyi 563000,Guizhou Province,China [4]Department of Cell Biology,Zunyi Medical University,Zunyi 563099,Guizhou Province,China [5]Department of Liver Diseases,the Third People’s Hospital of Changzhou,Changzhou 213000,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2022年第28期10346-10357,共12页世界临床病例杂志

基　　金：Supported by the National Natural Science Foundation of China,No.82160370;the Science and Technology Planning Projects of Guizhou Province and Zunyi City,No.QKHJC-ZK[2022]YB642,No.ZSKH·HZ(2022)344,No.gzwjkj2020-1-041,and No.ZMC·YZ[2018]38。

摘　　要：BACKGROUND Many genetic and metabolic diseases affect the liver,but diagnosis can be difficult because these diseases may have complex clinical manifestations and diverse clinical patterns.There is also incomplete clinical knowledge of these many different diseases and limitations of current testing methods.CASE SUMMARY We report a 53-year-old female from a rural area in China who was hospitalized for lower limb edema,abdominal distension,cirrhosis,and hypothyroidism.We excluded the common causes of liver disease(drinking alcohol,using traditional Chinese medicines,hepatitis virus infection,autoimmunity,and hepatolenticular degeneration).When she was 23-years-old,she developed night-blindness that worsened to complete blindness,with no obvious cause.Her parents were first cousins,and both were alive.Analysis of the patient’s family history indicated that all 5 siblings had night blindness and impaired vision;one sister was completely blind;and another sister had night-blindness complicated with cirrhosis and subclinical hypothyroidism.Entire exome sequencing showed that the patient,parents,and siblings all had mutations in the cytochrome P450 4V2gene(CYP4V2).The CYP4V2 mutations of the parents and two sisters were heterozygous,and the others were homozygous.Two siblings also had heterozygous dual oxidase activator 2(DUOXA2) mutations.CONCLUSION Mutations in the CYP4V2 gene may affect lipid metabolism and lead to chronic liver injury,fibrosis,and cirrhosis.

关 键 词：Cirrhosis Genetic metabolic liver disease Cytochrome P4504V2 Dual Oxidase activator 2 Bietti Crystalline corneoretinal dystrophy Case report 

分 类 号：R575.2[医药卫生—消化系统]