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目的:在新生儿疾病筛查中,应用灵敏、特异性高,微量的方法筛查出先天性肾上腺皮质增生症(CAH)。方法:应用时间分辨荧光免疫法检测出生3 天的新生儿血滤纸片中17α羟孕酮(17αOHP) 。可疑病例再检测静脉血中17αCHP、睾酮(T)、孕酮(P) 、雌二醇(E2) ,促肾上腺素(ACTH)、皮质醇(F) 及K、Na、Cl、Glu ,结合临床症状确诊本病。结果,通过以上方法在常规的新生儿疾病筛查中检出CAH 病1 例,并诊断与21β羟化酶缺乏症。本病极易误诊,及时确诊为下一步治疗起到积极作用。本病例是我国新生儿筛查中CAH 检出的首例报道。
Objective: To screen for congenital adrenal hyperplasia (CAH) by using sensitive, specific and trace methods in the screening of neonatal diseases. Methods: 17α OHP in neonatal blood filter paper was detected by time-resolved fluorescence immunoassay. In the suspected cases, 17αCHP, testosterone (T), progesterone (P), estradiol (E2), adrenaline (ACTH), cortisol (F) and K, Na, Cl, Symptoms confirmed the disease. As a result, one case of CAH disease was detected in the routine neonatal disease screening by the above method and was diagnosed with 21β-hydroxylase deficiency. The disease is extremely easy to misdiagnosis, timely diagnosis for the next step to play a positive role. This case is the first report of detection of CAH in neonatal screening in China.