21-羟化酶缺陷型先天性肾上腺皮质增生症治疗现状

Treatment for congenital adrenal hyperplasia with 21-hydroxylase deficiency

21-羟化酶缺陷型先天性肾上腺皮质增生症是一类常见的人类常染色体隐性遗传病。患儿可具有失盐、脱水、两性畸形、假性性早熟及肾上腺危象等临床征象，如何治疗该病一直为学者们所关注。近年来，在产前及出生后药物治疗领域，一些新兴药物及治疗方案在减轻患儿代谢紊乱，改善患儿身高等方面显示出了良好疗效。此外，针对该遗传性疾病的基因治疗研究及外科手术治疗也获得了巨大进展，更有助于患儿寿命的延长及生活质量的改善。

Congenital adrenal hyperplasia （CAH） with 21-hydroxylase deficiency is one of autosoreal reoessively inherited diseases. The clinical manifestations are as follows ： salt waste, dehydration, androgyneity, pseudo precocious puberty or baby adrenal crisis. Treatment of CAH with 21-hydroxylase deficiency attaches great attention by scholars. Recently, numerous new drugs and therapeutic schemes for perinatal and postnatal therapy are effective in improvement of metabolism and height of child patients. Besides, the devel- opment of surgical operation and gene therapy which refer to treatment of hereditary diseases have realized well. So increase of life span and improvement of life quality in CAH patients will be easier to implement.