Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis:A case report and review of the literature
作者机构：Department of Infectious DiseasesAffiliated Hospital of Zunyi Medical UniversityZunyi 563003Guizhou ProvinceChina Department of DigestionDafang County People’s HospitalBijie 551600Guizhou ProvinceChina Department of Intensive CareAffiliated Hospital of Zunyi Medical UniversityZunyi 563000Guizhou ProvinceChina Department of Cell BiologyZunyi Medical UniversityZunyi 563099Guizhou ProvinceChina Department of Liver Diseasesthe Third People’s Hospital of ChangzhouChangzhou 213000Jiangsu ProvinceChina
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2022年第10卷第28期
页 面：10346-10357页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
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-ZKYB642,No.ZSKH·HZ(2022)344,No.gzwjkj2020-1-041,and No.ZMC·YZ38
主 题：Cirrhosis Genetic metabolic liver disease Cytochrome P4504V2 Dual Oxidase activator 2 Bietti Crystalline corneoretinal dystrophy Case report
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 *** is also incomplete clinical knowledge of these many different diseases and limitations of current testing *** 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 *** 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 *** parents were first cousins,and both were *** 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 *** 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 *** siblings also had heterozygous dual oxidase activator 2(DUOXA2) *** Mutations in the CYP4V2 gene may affect lipid metabolism and lead to chronic liver injury,fibrosis,and cirrhosis.
维普期刊数据库