尼曼匹克病C型诊治进展  

Progress in diagnosis and treatment of Niemann-Pick disease type C

作　　者：张安安 刘晓琴 吴涛 Zhang Anan;Liu Xiaoqin;Wu Tao(Department of Hematology,the 940th Hospital of Joint Logistic Support Force of the Chinese People’s Liberation Army,Lanzhou 730050,China)

机构地区：[1]中国人民解放军联勤保障部队第九四〇医院血液科,兰州730050

出　　处：《国际遗传学杂志》2023年第3期216-222,共7页International Journal of Genetics

基　　金：甘肃省创新基地和人才计划 (21JR7RA015)。

摘　　要：尼曼匹克病C型(Niemann-Pick disease type C,NPD-C/NPC)是一种以进行性神经内脏表现为特征的常染色体隐性遗传病。该疾病由NPC1或NPC2基因突变引起。两种基因致病性表达导致胆固醇转运障碍,脂质在多个器官的溶酶体及晚期内体中积聚。NPC临床表现多样,有广泛的内脏、神经和精神症状。目前该病缺乏特异性治疗,整体预后较差。本文将对NPC的诊治进展作一综述。Niemann-Pick disease type C(NPD-C/NPC)is an autosomal recessive genetic disease characterized by progressive neurovisceral manifestations.The disease is caused by mutations in the NPC1 or NPC2 genes.Pathogenic expression in both genes leads to impaired cholesterol transport,with lipid accumulation in lysosomes and late endosomes of multiple organs.The clinical manifestations of NPC are diverse,with a wide range of visceral,neurological,and psychiatric symptoms.At present,the disease lacks specific treatment and the overall prognosis is poor.This article will review the progress in diagnosis and treatment of Niemann-Pick disease type C.

关 键 词：尼曼匹克病 基因突变 分子遗传学 美格鲁特 

分 类 号：R596.1[医药卫生—内科学]