先天性肾上腺皮质增生症筛查的相关进展

The progress of screening for congenital adrenal hyperplasia

先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)是一种常染色体隐形遗传疾病,其发病原因是由于在肾上腺合成皮质醇途径中所需酶的缺失,其中90%以上属于21-羟化酶缺失。无论是什么性别,患者在酶缺失状态下如果没有及时诊断或治疗,在出生后都会经历快速生长,或者性别模糊的临床症状。如果出现几种酶同时缺失的情况,更会造成新生儿失盐,甚至死亡。本文将对CAH的新生儿筛查、产前诊断、非新生儿诊疗和分子诊断技术进行讨论,以便更加深入地了解CAH的特征,同时对其诊断方法有更全面的认识。

Congenital adrenal hyperplasia is a kind of autosomal recessive disorders which resulting from the deficiency of the enzymes required for cortisol synthesis. The most frequent is steroid 21-hydroxylase deficiency, which accounting for more than 90 percent of cases. Both males and females will undergo rapid growth or gender blur if they haven＇t been diagnosed or treated in time. And in the case of several enzymes deficiency at the same time, the newborns will have to suffer from salt-loss or even death. The neonatal screening, prenatal diagnosis, non-infant diagnosis and molecular diagnostic techniques of CAH will be discussed in this paper for in-depth understanding about the characteristics and the diagnostic methods of CAH.