先天性肾上腺皮质增生症遗传学及研究方向进展

Genetic progress and future research directions of congenital adrenal hyperplasia

先天性。肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)是由于肾上腺类固醇激素合成代谢中某种酶的缺乏导致患者的皮质醇合成障碍为主要特征的常染色体隐性遗传性疾病,主要分为21-羟化酶缺乏症、11β-羟化酶缺乏症、3β-脱氢酶缺乏症、17α-羟化酶缺乏症、类脂性CAH,P450氧化还原酶缺乏,各表型临床表型复杂多样。深入研究各型CAH的基因型与临床症状的关系有助于疾病的认识、诊断、个体化治疗及遗传咨询。CAH相关的早期产前诊断、修饰基因与环境因素对表型的影响及全外显子测序的价值也值得进一步探讨。该文就近年来CAH遗传学及未来研究方向进展展开综述。

Congenital adrenal hyperplasia(CAH)is an umbrella term for inherited enzymatic deficiencies in cortisol synthesis.It's a monogenic,autosomal-recessive genetic disease.It is mainly divided into 21-hydroxylase deficiency,11β-hydroxylase deficiency,3β-hydroxysteroid dehydrogenase type 2,17α-hydroxylase deficiency,lipoid CAH and P450-oxidoreductase deficiency,and the clinical phenotype is complicated.Further study of the relation of the genotypes to the clinical symptoms of various types of CAH contributes to the understanding,diagnosis,individualized treatment and genetic counseling of the disease.The influence of CAH related early prenatal diagnosis,modified genes,environmental factors on phenotype and the value of total exon sequencing are also worthy of further study.This article reviews genetic development in recent years and future research directions of the disease.