先天性肾上腺皮质增生症诊断治疗进展  

Progress of diagnosis and clinical management of congenital adrenal hyperplasia

作　　者：罗飞宏[1] 

机构地区：[1]复旦大学附属儿科医院内分泌遗传代谢科,上海201102

出　　处：《中华实用儿科临床杂志》2015年第8期564-569,共6页Chinese Journal of Applied Clinical Pediatrics

摘　　要：先天性肾上腺皮质增生症（CAH）是一组因肾上腺皮质激素合成途径中酶缺陷引起的常染色体隐性遗传病,临床上可表现为两性畸形、假性性早熟或婴儿肾上腺危象,易漏诊或误诊.常见的酶缺陷包括21-羟化酶、11β-羟化酶、3β-类固醇脱氢酶、17α-羟化酶缺陷等,其中21-羟化酶缺乏最常见,90％以上的CAH患儿为该酶缺乏所引起.其基础治疗主要为终生使用皮质激素类药物.现重点介绍对该疾病的诊断、治疗原则以及需要关注问题的相关进展.Congenital adrenal hyperplasia （CAH） is a group of autosomal recessive disorders.Clinical manifestations can be hermaphroditism,pseudo-precocious puberty or acute infant adrenal crisis.The wide range of CAH symptom spectrums may lead to miss or misdiagnosis in those who had atypical clinical features.The common forms of CAH are caused by deficiency in 21-hydroxylase enzymes,11 β-hydroxylase,3β-steroid dehydrogenase,17α-hydroxylase and so on,while the most common form of CAH is 21-Hydroxylase deficiency （〉 90%）.The basic principal clinical management of CAH is lifelong therapy using corticosteroids.This paper review and summarize the recent progress on the diagnosis,principles of treatment and long-term prognosis of CAH.

关 键 词：先天性肾上腺皮质增生症 进展 产前诊断 产前治疗 终身高 生育咨询 

分 类 号：R722.1[医药卫生—儿科]