新生儿先天性甲状腺功能减退症的筛查及临床分析

目的：开展新生儿先天性甲状腺功能减退症（CH）的筛查及临床治疗，以期降低残疾儿童的发生率，提高我国人口素质，方法：应用国际先进的时间分辨荧光免疫法（Tr-FIA)检测新生儿滤纸干血片上TSH的[浓度筛查CH；且对筛查阳性的患儿进行临床分析。结果：筛查新生儿315 472例，确诊CH者66例，包括47例典型甲减，19例亚临床甲减，筛查阳性率为1／4 780，47例典型病例最终诊断为永久性甲减的41例，暂时性甲减2例，2例未满2岁未再作重新评估，1例因其他原因夭折，1例放弃，19例亚临床型病例最终诊断永久性甲减7例，暂时性甲减4例，商TSH血症5例，有3例未满2岁未再作重新评估，随访患儿目前体格及智力发育皆正常，结论：Tr-FIA法是筛查CH十分理想的非放射性免疫分析技术，筛查阳性的CH患儿，包括甲减和亚临床甲减病例，都应给以及时合理剂量甲状腺素治疗，是否终身治疗则需要根据2岁及5岁的重新评估作出决定。

Neonatal screening and clinical analysis for congenital hypothyroidism

Objective To develop the newborn screening and treatment for congenital hypothyroidism (CH) in order to prevent the children from growth and mental retardation and to improve the population quality in China. Methods TSH value in the dried blood spot speciments on the filter papter was measured by time resolved fluorescence immunoassay (Tr FIA). Clinical analysis for the CH patients was performed. Results Among 315472 neonates screened for CH, 66 (47 overt and 19 subclinical) cases of CH were confirmed and the incidence of CH was 1/4780. Among the 47 typical cases, 2 infants were recognized with transient hypothyroidism, 2 infants were not reevaluated because of below 2 year old, 1 infant died, 1 case gave up treatment, the rest 41 infants were permanent CH. Among the 19 atypical cases, 7 cases were recognized with permanent CH, 4 cases with transient disease, 5 cases with hyperthyrotropinemia, 3 cases were not evaluated because of below 2 years old at that time. The patients followed in the clinic are all currently with normal growth and intellectual development. Conclusion Our center is the first labolatory to screen CH with Tr FIA in China. Tr FIA is an ideal non radioactive technology. The typical patients as well as atypical cases should be all treated using L thyroxine. It is essential to arrange a trial treatment for confirming the diagnostic results from screening and to decide whether they need a lifetime treatment.