拟盐皮质激素增多综合征的研究进展

Research progress of apparent mineralocorticoid excess syndrome

拟盐皮质激素增多综合征(AME)是由11β-羟基类固醇脱氢酶2基因突变引起的一种常染色体隐性遗传病,多于新生儿及成年期发病.该病由Werde等1977年首次报道,以低肾素型高血压、低醛固酮血症、代谢性碱中毒、高钠血症、低钾血症为临床特征.近年来,随着临床诊断水平特别是基因检测水平的提高, AME陆续被发现.现对AME的发病机制、临床表现、诊断和治疗等方面的研究进展进行综述,以进一步提高对该病的认识,为其临床诊治提供参考.

Apparent mineralocorticoid excess(AME) is an autosomal recessive inheritance caused by 11β-hydroxysteroid dehydrogenase 2 gene mutation.It may occur in newborn and adult.AME was first reported in 1977 by Werder et al.Its clinical features include hyporenin type hypertension, hypoaldosteronemia, metabolic alkalosis, hypernatremia and hypokalemia.In recent years, with the improvement of clinical diagnosis, especially gene detection, AME has been reported one after another.In this paper, the pathogenesis, clinical manifestation, diagnosis and therapy of AME were reviewed in order to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.