醛固酮合成酶缺乏症的研究进展  

Research progress on aldosterone synthetase deficiency

作　　者：吴虹林 和秀梅 何玺玉 Wu Honglin;He Xiumei;He Xiyu(Department of Pediatrics,the Fifth Medical Center,Chinese People′s Liberation Army General Hospital,Beijing 100071,China;Department of Pediatric Medicine,the Seventh Medical Center,Chinese People′s Liberation Army General Hospital,Beijing 100010,China)

机构地区：[1]中国人民解放军总医院第五医学中心儿科,北京100071 [2]中国人民解放军总医院第七医学中心儿科医学部,北京100010

出　　处：《中华实用儿科临床杂志》2024年第9期715-717,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：军队计生专项(21JSZ16)。

摘　　要：醛固酮合成酶缺乏症(ASD)是一种由CYP11B2基因变异所致的罕见常染色体隐性遗传疾病,临床表现主要为婴幼儿时期反复呕吐、腹泻、体格增长缓慢、低钠血症、高钾血症、低血容量等。临床上难与其他婴儿失盐性疾病鉴别。目前,ASD确诊主要依靠类固醇激素水平测定和变异基因分析。9α-氟氢可的松是治疗ASD的主要药物,但治疗方案尚未统一。现就ASD的病因、发病机制、临床表型、诊断和治疗等方面的研究进展进行综述,以期提高临床医师的诊疗水平。Aldosterone synthetase deficiency(ASD)is a rare autosomal recessive genetic disorder caused by the CYP11B2 gene mutation.The clinical manifestations are mainly repeated vomiting,diarrhea,slow physical growth,hyponatremia,hyperkalemia,and hypovolemia in infants and young children.It is clinically difficult to distinguish it from other infantile salt loss diseases.At present,the diagnosis of ASD mainly depends on the measurement of steroid hormone levels and the analysis of genetic variants.9α-Fluhydrocortisone is the main drug for the treatment of ASD,but the treatment regimens are not yet unified.This article reviews the research progress in the etiology,pathogenesis,clinical phenotype,diagnosis and treatment of ASD in order to improve clinicians′competence in diagnosing and treating this disease.

关 键 词：醛固酮合成酶缺乏症 CYP11B2基因 高钾血症 低钠血症 代谢性酸中毒 

分 类 号：R725.9[医药卫生—儿科]