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目的分析和总结广东湛江地区先天性甲低的新生儿筛查及诊断治疗情况。方法收集湛江市新生儿出生后72h的足跟血滤纸干血斑标本,应用时间分辨荧光免疫法检测促甲状腺素(TSH)筛查先天性甲状腺功能减低症(CH),应用化学发光免疫分析法检测血清中TSH、游离甲状腺素(FT4)、甲状腺素(T4)、游离三碘甲腺原氨酸(FT3)、三碘甲腺原氨酸(T3)确诊CH,确诊为CH的患儿给予治疗。结果 1997年至2013年共筛查新生儿1 038 409例。检出CH 363例,发病率1/2861,治疗率91.2%。开始治疗平均年龄为17.2天,智能正常(IQ或ID>90)者289例(87.3%),低于正常(70≤IQ或ID<90)者42例(12.7%),智能残疾(IQ或ID<70)者0例,合并为筛查有效率100%。对照组4例,开始治疗平均年龄7.5岁,低于正常2例,智能残疾2例,筛查组的智能发育明显好于对照组(χ2=37.57,P<0.01)。结论新生儿筛查是先天性甲低的一种早期诊断防治方法,对检出的CH进行早期有效治疗,可保持智能和体格发育正常。
Objective To analyze and summarize the screening and diagnosis of congenital hypothyroidism in Zhanjiang, Guangdong Province. Methods Blood samples of heel hematophagoides were collected at 72h after birth in Zhanjiang City. Thyroid-stimulating hormone (TSH) was used to screen for congenital hypothyroidism (CH) by time-resolved immunofluorescence. Chemiluminescence immunoassay Serum TSH, free thyroxine (FT4), thyroxine (T4), free triiodothyronine (FT3), triiodothyronine (T3) confirmed CH, diagnosed with CH in children given treatment. Results A total of 1 038 409 newborns were screened from 1997 to 2013. CH 363 cases were detected, the incidence of 1/2861, the treatment rate of 91.2%. 289 (87.3%) had normal intelligence (IQ or ID> 90), 42 (12.7%) had lower than normal (70≤IQ or ID <90), IQ ID <70) in 0 cases, combined with the screening efficiency of 100%. Control group, 4 cases, the average age of onset of treatment of 7.5 years old, lower than normal in 2 cases, 2 cases of mental disability, intelligent development in the screening group was significantly better than the control group (χ2 = 37.57, P <0.01). Conclusion Neonatal screening is an early diagnosis and treatment method for congenital hypothyroidism. Early detection of CH is effective and can maintain normal intelligence and physical development.