先天性类脂质性肾上腺增生症的研究进展

Research progress of congenital lipoid adrenal hyperplasia.

先天性类脂质性肾上腺增生症(CLAH)是先天性肾上腺增生症(CAH)中最为严重的一种类型,主要是由类固醇生成急性调控蛋白(StAR)基因和编码胆固醇侧链裂解酶(P450scc)基因突变引起,是一种常染色体隐形遗传疾病。典型的CLAH多在患儿出生不久后即出现失盐及肾上腺功能不全的症状,如脱水、低钠血症、高钾血症等,同时合并有性发育障碍、皮肤色素沉着,治疗上多以对症治疗及皮质激素治疗为主,若不及时治疗,有可能出现肾上腺危象,危及患者生命。目前CLAH具体发病机制不详,本文主要就CLAH、StAR、P450scc及三者之间的联系予以(综述),以期为CLAH的研究进展提供参考依据。

Congenital lipoid adrenal hyperplasia(CLAH)is the most serious type of congenital adrenal hyper-plasia(CAH).It is mainly caused by mutation of steroid acute regulatory protein(StAR)gene and gene encoding choles-terol side chain lyase(P450scc),and it is an autosomal recessive genetic disease.Typical CLAH often appears symptoms such as dehydration,hyponatremia,hyperkalemia shortly after the birth of children.At the same time,it is complicated with sexual development disorder and skin pigmentation.Symptomatic treatment and corticosteroid treatment are the main treatment methods.If not treated in time,adrenal crisis may occur,endangering patients'lives.At present,the spe-cific pathogenesis of CLAH is unknown.This article mainly reviews CLAH,StAR,P450scc,and their relationship,in or-der to provide reference for the research progress of CLAH.