17α-羟化酶缺陷症诊治研究进展  

Research progress of diagnosis and treatment of 17α-hydroxylase deficiency

作　　者：马婧 杜雅丽 权金星[1] Ma Jing;Du Yali;Quan Jinxing(Department of Endocrinology and Metabolism,Gansu Provincial Hospital,iMnzhou 730000,China;Department of Ophthalmology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China)

机构地区：[1]甘肃省人民医院内分泌代谢科,兰州730000 [2]华中科技大学同济医学院附属协和医院眼科,武汉430000

出　　处：《国际内分泌代谢杂志》2020年第5期323-326,共4页International Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金(81860091)。

摘　　要：17α-羟化酶缺陷症(17OHD)是由编码17α-羟化酶(P450c17酶)的CYP17A1基因突变所致肾上腺皮质激素和性激素合成障碍的一种罕见常染色体隐性遗传病。高血压、低钾血症、性发育异常等为其主要表现,由于该疾病临床表现复杂多样,患者早期症状不典型,临床上误诊率和漏诊率高。结合目前最新的研究证据,介绍17OHD的流行病学、病因和发病机制、临床表现、诊断和鉴别诊断、治疗和预后,可加深对该疾病的认识,从而更好的指导临床工作。17α-hydroxylase deficiency(17OHD)is a rare autosomal recessive disease of adrenocortical hormone and sex hormone synthesis disorder caused by mutation of CYP17A1 gene encoding 17-αhydroxylase(P450c17 enzyme).The disease characterized by hypertension,hypokalemia and disorders of sex development.Due to complicated manifestation and untypical early symptom,the misdiagnosis rate and missed diagnosis rate are high.According to the latest research evidence,the epidemiology,etiology and pathogenesis,clinical manifestations,diagnosis and differential diagnosis,treatment and prognosis of 17OHD are introduced,which aims to better guide clinical work through the profound understanding of 17OHD.

关 键 词：17Α-羟化酶缺陷症 先天性肾上腺皮质增生症 高血压 低钾血症 

分 类 号：R586[医药卫生—内分泌]