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目的 总结对新生儿先天性肾上腺皮质增生症 (CAH)的筛查和诊治经验。了解南京地区CAH的发病率。方法 测定纸片血斑中 17羟孕酮 (17α -OHP)。可疑病例再测静脉中促肾上腺素 ,睾酮 ,孕酮 ,雌二醇 ,钾钠氯 ,血糖 (ACTH ,T ,P ,E2 ,K+ ,Na+ ,Cl-,GLU)及染色体检查 ,结合临床确诊本病。结果 自 1993年～ 2 0 0 2年 1月 ,共筛查出 5例阳性病例。结论 CAH属于常染色体隐性遗传病 ,出生时常缺乏症状 ,极易误诊 ,故推广此种方法进行大规模新生儿筛查可以早期诊断、及时治疗。预防新生儿生长发育受损及肾上腺危象的发生。
Objective To summarize the screening and diagnosis and treatment of neonatal congenital adrenal hyperplasia (CAH). To understand the incidence of CAH in Nanjing. Method Determination of 17 hydroxyprogesterone (17α-OHP) in blood spots of paper. The suspicious cases were tested for the presence of adrenaline, testosterone, progesterone, estradiol, potassium sodium, blood glucose (ACTH, T, P, E2, K +, Na +, Cl- and GLU) disease. Results From 1993 to January 2002, 5 positive cases were screened out. Conclusion CAH belongs to autosomal recessive disease. It is often misdiagnosed when it is born, so it is easy to misdiagnose. Therefore, to popularize this method for large-scale neonatal screening can be diagnosed and treated promptly. Prevention of impaired growth and development of neonatal adrenal crisis.