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目的研究连云港地区新生儿疾病先天性甲状腺功能低下症(CH)、苯丙酮尿症(PKU)的发生、分布及临床流行病学特征。方法采用干血滤纸片法,对出生72h的新生儿采集足跟血,用细菌抑制法检测血苯丙氨酸浓度,酶连免疫吸附法检测血片中促甲状腺激素水平,并对确诊患儿做临床流行病学分析。结果PKU和CH筛查阳性率分别为10.41/10万、20.82/10万,流行病学调查未见近亲结婚和遗传家族史。母孕期正常,CH患儿有7名(7/10)新生儿黄疸延迟。结论PKU和CH在连云港地区散在发生和分布;进行新生儿筛查,使患儿得到早期诊治,是提高我国人口素质的重要措施。
Objective To study the occurrence, distribution and clinical epidemiology of congenital hypothyroidism (CH) and phenylketonuria (PKU) in neonatal diseases in Lianyungang. Methods Hepatic blood was collected from the newborn infants 72h after birth by dry blood filter paper method. The blood levels of phenylalanine were detected by bacterial inhibition method. The levels of thyroid stimulating hormone in the blood samples were detected by enzyme linked immunosorbent assay. Do clinical epidemiological analysis. Results The positive rates of PKU and CH were 10.41 / 100 000 and 20.82 / 100 000, respectively. No epidemiological investigation of inbreeding and genetic family history was found. Pregnancy is normal, seven children with CH (7/10) neonatal jaundice are delayed. Conclusions The PKU and CH are scattered and distributed in Lianyungang area. The screening of newborns and the early diagnosis and treatment of infants are important measures to improve the population quality in our country.