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目的了解保定市近几年新生儿先天性甲状腺功能低下症(congenital hypothyroidism,CH)的发病率,并对确诊患儿的治疗情况进行分析。方法以2005年1月～2008年7月间保定市区及部分县、乡出生的新生儿为对象,出生3天后,采集足跟血滴于S&903S型号滤纸上,采用时间分辨荧光免疫法(DELFIA),通过测定滤纸干血片中的促甲状腺素(thyroid-stimulating hormone,TSH)的含量进行先天性甲低筛查;电化学发光法测定血清中FT3、FT4、T3 T4和TSH的含量进行确诊;口服左旋甲状腺素片(L-T4)给予治疗。初始剂量为8～10μg/kg.d,顿服,维持剂量以无用药过量临床症状且FT4在正常范围之上限为剂量标准,定期随访,进行体格、智能发育、骨龄生长发育情况及血清FT3、FT4、T3 T4和TSH含量的测定。结果2005年1月～2008年7月共筛查146 219人,确诊先天性甲低44人,其中暂时性甲低2人,发病率为0.30‰(1/3333)。确诊患儿(除3人到外院进行治疗,1人治疗过程中拒绝随访外)治疗1个月后,血清FT4恢复正常36人,50天内恢复正常4人,体格和智能发育均在正常范围内,骨龄发育基本正常。结论新生儿筛查是早发现先天性甲低的重要手段,而且早诊断,早治疗是预防患儿体格及智能严重受损的关键。
Objective To understand the incidence of neonatal congenital hypothyroidism (CH) in recent years in Baoding and to analyze the treatment of the diagnosed children. Methods From January 2005 to July 2008, newborn infants born in Baoding city and some counties and townships were enrolled. Three days after birth, heel blood was collected on S & 903S filter paper. Time-resolved fluorescence immunoassay (DELFIA ). The content of thyroid-stimulating hormone (TSH) in the dried filter paper of filter paper was measured for congenital hypothyroidism. The contents of FT3, FT4, T3 T4 and TSH in serum were determined by electrochemiluminescence ; Oral levothyroxine tablets (L-T4) given treatment. Initial dose of 8 ~ 10μg / kg.d, Dayton clothes, to maintain the dose without medication overdose clinical symptoms and FT4 in the upper limit of normal range for the dose standard, regular follow-up, physical, mental development, bone age growth and development and serum FT3, FT4, T3 T4 and TSH content determination. Results From January 2005 to July 2008, a total of 146 219 people were screened. Forty-four patients with congenital hypothyroidism were diagnosed, of whom 2 were transiently hypothyroidism with a prevalence of 0.30 ‰ (1/3333). The diagnosed children (except 3 people who were hospitalized outside the hospital and one patient refused to follow-up during the course of treatment) returned to normal after 4 months of treatment, and returned to normal within 4 days after FT4. The physical and intellectual development were within the normal range , Bone age basically normal. Conclusion Neonatal screening is an important means of early detection of congenital hypothyroidism. Early diagnosis and early treatment are the keys to prevent severe physical and intellectual impairment of children.