Lajic Svetlana, Karlsson Leif, Zetterström Rolf H, Falhammar Henrik, Nordenström Anna
Department of Women's and Children's Health, Karolinska Institutet, SE-17176 Stockholm, Sweden;
Pediatric Endocrinology Unit, Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE-17176 Stockholm, Sweden.
Int J Neonatal Screen. 2020 Aug 26;6(3):68. doi: 10.3390/ijns6030068. eCollection 2020 Sep.
Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency is now performed in an increasing number of countries all over the world. The main goal of the screening is to achieve early diagnosis and treatment in order to prevent neonatal salt-crisis and death. The screening laboratory can also play an important role in increasing the general awareness of the disease and act as the source of information and education for clinicians to facilitate improved initial care, ensure prompt and correct glucocorticoid dosing to optimize the long-term outcome for the patients. A National CAH Registry and genotyping provide valuable information both for evaluating the screening program and the clinical outcome. The Swedish experience is described.
目前，世界上越来越多的国家开展了针对21-羟化酶缺乏所致先天性肾上腺皮质增生症的新生儿筛查。筛查的主要目的是实现早期诊断和治疗，以预防新生儿盐耗危机和死亡。筛查实验室在提高公众对该疾病的认识方面也可发挥重要作用，并作为临床医生的信息和教育来源，以促进改善初始治疗，确保及时、正确地给予糖皮质激素剂量，从而优化患者的长期预后。国家先天性肾上腺皮质增生症登记处和基因分型为评估筛查项目和临床结果提供了有价值的信息。本文描述了瑞典的经验。
