二氢嘧啶酶缺陷症研究进展  

Research progress of dihydropyrimidinase deficiency

作　　者：雷梅芳[1] 李鸿[1] 张玉琴[1] Lei Meifang;Li Hong;Zhang Yuqin(Department of Neurology,Tianjin Children′s Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院神经内科,300074

出　　处：《中华实用儿科临床杂志》2021年第1期70-73,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：二氢嘧啶酶(DHP)缺陷症是一种罕见的嘧啶降解代谢障碍性疾病,以二氢嘧啶尿为特征,具有高度的表型异质性,DPYS为其致病基因,全球共有不到40例病例报道,尿气相色谱-质谱可筛查临床可疑的患者,基因测序为该病的主要确诊手段。现对该病的发病机制、临床表现、基因型特点及最新研究进展作一综述。Characterized by dihydropyrimidinuria,dihydropyrimidinase(DHP)deficiency refers to a rare disorder of pyrimidine degradation,with high phenotypic heterogeneity.The disease-causing gene is DPYS,and less than 40 cases were reported worldwide.Urinary gas chromatography/mass spectrometer(GC/MS)can screen clinically suspected patients,and gene sequencing is the main means of the diagnosis of the disease.This article reviews the pathogenesis,clinical manifestation,genotype and recent research progress of the disease.

关 键 词：二氢嘧啶酶缺陷症 DPYS基因 基因测序 尿气相色谱-质谱 

分 类 号：R725.8[医药卫生—儿科] R589[医药卫生—临床医学]