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。

abstractsAldosterone 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.