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先天性肾上腺皮质增生症(CAH)是一组常染色体隐性遗传病,11β-羟化酶缺陷症是其第二常见类型,由CYP11B1基因突变导致。先天性CYP11B1基因缺陷使11-β羟化酶活性减弱或丧失,皮质醇合成受阻,合成皮质醇的前体物质大量堆积,血清学以11-去氧皮质酮(DOC)、17-羟孕酮、雄激素水平升高为特征,相应的出现低肾素性高血压、低血钾、女性男性化等主要临床表现。近年来,对CYP11B1基因的突变位点及其功能的研究逐渐增多。本文简述目前11β-羟化酶缺陷症的病理生理机制、临床表现以及分子遗传学研究现状。
Abstract：Congenital adrenal hyperplasia(CAH)is an autosomal recessive disorder.The 11β-hydroxylase deficiency,as the second most common cause of CAH,is caused by the mutation of the CYP11B1gene.Congenital anomaly in CYP11B1gene results in declined activity of 11β-hydroxylase, therefore decreases synthesis of cortisol in the zona fasiculata and accumulation of steroid precursors.Thus,11β-hydroxylase deficiency is characterized by the increase serum concentrations of 11-deoxycorticosterone,17-hydroxyprogesterone and androgen,resulting in hypertension with low renin level, hypokalemia and genital ambiguity in affected females.Recently,a large number of novel mutations in CYP11B1gene were identified and the function of mutant P450c11B1was studied.This review summarizes the pathophysiology,clinical presentation and molecular genetics of 11β-hydroxylase deficiency.
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基本信息:
中图分类号:R596.1
引用信息:
[1]王晓晶,聂敏,孙梅励.11β-羟化酶缺陷症遗传学研究现状[J].生殖医学杂志,2014,23(02):160-164.
基金信息:
国家临床重点资助项目(WBYZ2011873)
2014-02-15
2014-02-15