先天性肾上腺皮质增生症21羟化酶缺乏儿童代谢综合征研究进展  

Research progress of metabolic syndrome in children with classic congenital adrenal hyperplasia due to 21 - hydroxylase deficiency

作　　者：林娟[1] 马华梅[1] 

机构地区：[1]中山大学附属第一医院儿科,广州510080

出　　处：《中华实用儿科临床杂志》2016年第8期631-634,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：先天性肾上腺皮质增生症（CAH）21羟化酶缺乏（21-OHD）是相对常见的遗传性内分泌疾病，其治疗方法是糖／盐皮质激素替代、维持正常生长发育，过度治疗或治疗不足则是治疗中常见的2种现象。研究发现，CAH21-OHD成人患者的代谢紊乱及心脑外周血管疾病发生率显著增高；对儿童患者代谢紊乱的研究则较少，国内尚未见报道。现综述近年来关于21-OHD患者的代谢紊乱的表现及发病机制的研究进展。Congenital adrenal hyperplasia （CAH） owing to steroid 21 - hydroxylase deficiency （21 - OHD） was a relatively frequent of autosomal recessive disorders characterized by the inactivation of the steroid - synthesizing enzyme in the adrenocortex. Corticosteroids （glucocorticoids and mineralocorticoid） replacement therapy was the prima- ry treatment of 21 - OHD. The main objective of 21 - OHD treatment in children was to maintain normal growth. Inade- quate or excessive treatment was commonly observed. A number of studies reported that 21 - OHD adult were at increa- sing risk of developing metabolic syndrome and cardiovascular events. However, there was few researches on 21 - 0HD children with metabolic disorders, and no domestic reports. The article summarized recent clinical research progresses in research on the alterations of lipid and carbohydrate metabolism in children with classic 21 - OHD.

关 键 词：先天性肾上腺皮质增生症 21羟化酶缺乏 代谢综合征 心血管疾病 

分 类 号：R725.8[医药卫生—儿科]