连云港市新生儿筛查疾病的临床流行病学研究

目的研究连云港地区新生儿筛查疾病——先天性甲状腺功能减退症（CH）和苯丙酮尿症（PKU）的临床流行病学特征。方法对2000年9月—2005年8月出生的共139604名新生儿，采集其出生72h后的足跟血于干血滤纸片上。采用测血苯丙氨酸（Phe）作为PKU的筛查指标，用盖氏细菌抑制法测定：采用促甲状腺素（TSH）作为CH的筛查指标，用酶联免疫吸附试验（ELISA）或时间分辨荧光免疫法（TRFIA）。结果确诊CH病儿58例，发病率41.54／10万（1／2407）；经甲状腺核素显像40例，其中甲状腺异常22例（55％）；临床流行病学调查58例病儿分布在全市的4县3个城区的43个乡镇（街道），男女性别无差异，农村发病率高于城区（P〈0．05），发现1对双胞胎CH病儿；确诊苯丙酮尿症病儿15例，发病率为10．74／10万（1／9307）；以上病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。病儿身体与智力发育与同龄儿比较无明显差异。结论CH、PKU在连云港地区呈散发性分布，发病率属国内平均水平，进行新生儿筛查是发现CH、PKU的唯一有效手段，使病儿得到早诊治，是提高我国人口素质的重要手段。

Clinical Epidemiological Study of Neonatal Disease Screening

[Objective]To study the clinical epidemiological features of neonatal disease screening,namely congenital hypothyroidism (CH) and phenylketonuria(PKU).[Methods]130 604 newborns since Sep.2000 to Aug.2005 were screened for PKU and CH by collecting their heel prick blood samples 72 hours postnatal.Guthrie's bacterial inhibition method was applied to determine the serum phenylalanine concentration(Phe) for PKU screening;ELISA or TRFIA were applied to determine TSH for CH screening.[Results]58 cases of CH were detected(1/2 407);22 cases out of 40 were found with abnormal thyroid gland by nuclein kinescope picture;the 58 patients resided in villages and towns of Lianyungang city,no difference was found between males and females;the incidence in rural areas was higher than that in the city(P<0.05);a twin newborns were found with CH;15 cases of PKU were detected with an incidence of 1/9 307;neither consanguineous marriage nor dominance hereditary family history were found in the newborns patients' families;the patients' physical and mental development were similar with that of the children of the same age after intervene treatment.[Conclusion]CH and PKU are spot-distributed,the incidence of which belongs to the average level in China;neonatal screening is the only effective means to discover CH and PKU and provide prompt treatment for the patients and an important measure to improve the quality of the population of China.