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目的了解柳州地区先天性甲状腺功能减低症(CH)的发病率和疾病特点。方法回顾性分析2007年1月至2011年10月在柳州市新生儿疾病筛查中心进行新生儿CH筛查及确诊患儿的资料。结果共筛查198913例新生儿,确诊CH患儿126例,发病率1∶1579。所有CH患儿均有血清TSH升高和FT4降低,126例确诊患儿滤纸干血片筛查时TSH9～15mIU/L21例,占16.7%;TSH>15mIU/L105例,占83.3%。患儿临床表现以病理性黄疸最多见,占48.4%。经甲状腺素治疗,119例患儿在治疗1个月内FT4水平达正常范围,7例在2个月内达正常范围,临床无甲状腺功能低下的表现。结论柳州地区新生儿CH发病率较高,CH患儿临床表现非特异性,通过新生儿疾病筛查可早期诊断CH、及早开展治疗。
Objective To understand the incidence and disease characteristics of congenital hypothyroidism (CH) in Liuzhou area. Methods A retrospective analysis of neonatal CH screening and diagnosis of children in the Newborns Disease Screening Center from January 2007 to October 2011 was conducted. Results A total of 198913 cases of newborns were screened, 126 cases were diagnosed with CH, the incidence of 1:1579. All children with CH had elevated serum TSH and decreased FT4. TSH9 ~ 15mIU / L was detected in 126 cases of filter paper dry film screening in 126 cases, accounting for 16.7%; TSH> 15mIU / L was 83.3%. The most common clinical manifestations of children with pathological jaundice, accounting for 48.4%. Thyroxine treatment, 119 cases of children within 1 month of treatment within the normal range of FT4, 7 cases within 2 months up to the normal range, the clinical performance of thyroid dysfunction. Conclusions The incidence of neonatal CH in Liuzhou is higher than that in CH. The clinical manifestations of CH are nonspecific. The screening of neonatal diseases can be used to diagnose CH early and start treatment as soon as possible.