论文部分内容阅读
先天性肾上腺皮质增生症(Congental adrenal hyperylasia,(CAH)又称肾上腺生殖器综合征,为由酶缺乏引起的类固醇合成障碍,呈常染色体隐性遗传。最常见者为21-羟化酶缺乏症(经典型CAH)。临床可分为单纯性男性化型和伴男性化失盐型。前者由于肾上腺皮质束状带21-羟化酶缺乏所致,后者则由于束状带和小球带均缺乏该酶而引起。失盐型患儿一般在出生后2周内即可出现肾上腺衰竭症状,死亡率较高,幸存者需终身服用激素治疗。因此,对高危孕妇进行产前诊断具有重要的优生学意义。本文报告应用羊水类固醇浓度测定和羊水细胞HLA分型技术产前诊断CAH一例的结果。
Congenital adrenal hyperyglasiasis (CAH), also known as adrenal genital syndrome, steroid synthesis due to enzyme deficiency caused by autosomal recessive inheritance, the most common are 21-hydroxylase deficiency ( Classic CAH) .Clinical can be divided into simple masculine and male with salt-losing type.The former due to the adrenal fascicularis caused by 21-hydroxylase deficiency, the latter due to the bundle zone and the ball are Lack of the enzyme caused by loss of salt-type children generally appear within 2 weeks after birth symptoms of adrenal failure, high mortality and survivors need to take hormone therapy for life.Therefore, high-risk prenatal diagnosis of pregnant women is important Eugenics significance.This paper reports the results of prenatal diagnosis of CAH using amniotic steroid concentration determination and amniotic fluid cell HLA typing technology.