论文部分内容阅读
目的 :了解湖南省新生儿生天性甲状腺功能减低症 (CH)和苯丙酮尿症 (PKU)的发病情况 ,早期诊断和治疗。方法 :采用时间分辨荧光免疫法 (DELFIA)测定促甲状腺素 (TSH)浓度 ,使用盖塞利细菌抑制法或荧光法测定血苯丙氨酸 (Phe)浓度。对TSH≥ 2 0 μU/L或Phe≥ 0 .2 6mmol/L(2mg/dl)者 ,进行确诊检查 ,确诊后给予治疗并随访。结果 :湖南省部分地区 46 32 3例新生儿 ,确诊为CH 2 8例 (包括 3例TSH延期上升型CH) ,PKU患儿 1例。经治疗随访患者智能体格发育正常。结论 :新生儿筛查能早期发现PKU和CH患儿 ,及时诊断、治疗和预防智力低下发生 ,值得大力推广
Objective: To understand the incidence of neonatal hypothyroidism (CH) and phenylketonuria (PKU) in Hunan Province, early diagnosis and treatment. Methods: Thyrotropin (TSH) concentration was determined by time-resolved fluorescence immunoassay (DELFIA), and the concentration of Phe was determined by Geisel method or fluorescence method. For TSH ≥ 20 μU / L or Phe ≥ 0.26mmol / L (2mg / dl) were diagnosed, diagnosed after treatment and follow-up. Results: 46 32 3 newborns in some areas of Hunan Province were diagnosed as CH 2 in 8 cases (including 3 TSH delayed ascending CH) and 1 in PKU. After treatment follow-up patients with normal physical development. Conclusion: Neonatal screening can detect PKU and CH children early and diagnose, treat and prevent mental retardation in time, so it is worth promoting