经典型21-羟化酶缺乏症遗传学分析并生长激素疗效观察——附一家系报告  

Genetic analysis of classical 21-hydroxylase deficiency and clinical efficacy of rh-GH treatment： Report of a pedigree

作　　者：郑瑞芝[1] 赵志刚[1] 汪艳芳[1] 袁慧娟[1] 王遂军[1] 苏永[1] 张会峰[1] 虎子颍[1] 袁倩[1] 李晓玲[1] 

机构地区：[1]河南省人民医院内分泌科,郑州450003

出　　处：《中华内分泌代谢杂志》2013年第12期1044-1047,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：河南省卫生厅医学学术技术带头人出国培训计划项目（201201086）;河南省卫生科技创新型人才工程中青年科技创新人才专项资金资助项目（第4014号）

摘　　要：回顾性分析1例经典型21-羟化酶缺乏症（2l—OHD）患者的临床资料，采用PCR—DNA直接测序技术对患者及其家系成员与50例无血缘关系个体进行CYP21A2基因遗传学分析。序列分析发现先证者存在复合杂合突变（剪切点突变IVS2—13A—G和错义突变Arg483Pro）。家系成员中，3个父系成员携带剪切点突变IVS2-13A—G，3个母系成员携带错义突变位点Arg483Pro。提示在本家系中，复合杂和突变可能致病，单个杂合突变携带者无临床表型。患儿生长激素宜尽早应用。Retrospective analysis of clinical data from a patient with classical 21-hydroxylase deficiency. The patient and her family members and 50 unrelated individuals were enrolled for genotyping in the CYP21 A2 gene by PCR-DNA direct sequencing. A compound heterozygous mutation of IVS2-13 A--~G and Arg483 Pro was found in the proband. Among the family members, 3 patrilineal family members were IVS2-13 A---~ G heterozygotes, the other 3 matrilineal family members were Arg483Pro heterozygotes. The result suggests that the carrier with compound heterozygotes mutation of CYP21A21 gene may lead to clinical symptom, while single heterozygotes mutation carriers showed no clinical phenotype. Children with 21-OHD should be treated with rh-GH as early as possible.

关 键 词：先天性肾上腺皮质增生症 21-羟化酶缺乏症 CYP21A2基因 

分 类 号：R586[医药卫生—内分泌]