摘要
目的探讨连云港地区新生儿先天性甲状腺功能减退症(CH)及苯丙酮尿症(PKU)发病及分布特征。方法采集生后72 h新生儿155 091例足跟血于干血滤纸片上。PKU采用盖氏细菌抑制法测血苯丙氨酸(Phe)水平、CH采用酶联免疫吸附试验(ELISA)或时间分辨荧光免疫法(TRFIA)测促甲状腺素(TSH)作为筛查指标。结果确诊CH患儿64例,发病率4.126/万(1∶2423);经甲状腺核素显像41例,其中甲状腺异常23例(56%);64例分布在全市的4县3个城区的45个乡镇(街道),男女性别和城乡发病率均无差异(P均>0.05),发现1对双胞胎CH患儿;确诊苯丙酮尿症患儿15例,发病率为0.967/万(1∶10 339);以上患儿父母未见近亲结婚和显性遗传家族史,母孕期正常,经干预治疗,患儿身体和智力发育与同龄儿比较无显著差异。结论CH、PKU在连云港地区呈散发性分布,进行新生儿筛查是发现CH、PKU的唯一有效手段。
Objective To explore the incidence and distribution features of neonatal phenylketonuria（PKU） and congenital hypothyroidism（CH） in Lianyungang area. Methods The heel blood samples dried on filter paper was collected from newborns after 72 hours. As the screening indicators, PKU was detected through serum phenylalanine concentration（Phe） detection by Guthrie＇s bacterial inhibition as- say and CH was detected through serum thyroid stimulating hormone（TSH） levels detection by timeresolved fluorometry（TRFlA） or enzyme linked immunosorbent assay（ELISA）. Results Sixty - four children with CH were diagnosed and the rate of CH was 1 ： 2423,41 patients were examined by thyroid gland nuclein kinescope picture, among which there were 23 patients whose thyroid glands were unusal. These patients lived in 45 towns（streets）, which had no difference between men and women, city and country side. A couple of twins were screened for CH; 15 cases of PKU was detected with an incidence of 1 ： 10 339. These patients parents were neither consanguineous marriage nor dominance hereditary family history. Their physical and mental development were similar to the ,same age children after intervenrive treatment. Conelusions The distribution of CH and PKU is diffuse in Lianyungang. Neonatal ~reening is the only valid means to find patients with CH and PKU.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2006年第20期1381-1382,1401,共3页
Journal of Applied Clinical Pediatrics
