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目的了解梧州市先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病率和新生儿疾病筛查情况。方法对梧州市2010、2011年两年已进行新生儿疾病筛查的55 331例资料进行回顾性分析。结果梧州市新生儿CH、PKU的筛查率由2010年的32.73%上升至2011年的69.35%,CH发病率0.10%(56/55 331),PKU未发现确诊病例,G6PD缺乏症发病率(市本级)12.57%(573/4557)。确诊后规范治疗的患儿随访未发现体格、智力发育明显落后。结论我市新生儿疾病筛查工作取得初步成效,筛查率呈逐年上升趋势。CH、G6PD缺乏症发病率明显高于全国平均水平,新生儿疾病筛查可早期发现CH、PKU、G6PD缺乏症患儿,尽早对其进行干预,可避免或减轻体格、智力发育落后,对提高人口素质,减轻社会、家庭负担有着深远意义。
Objective To investigate the prevalence of congenital hypothyroidism (CH), phenylketonuria (PKU) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in Wuzhou and the screening of neonatal diseases. Methods A retrospective analysis of 55 331 cases of neonatal screening conducted in Wuzhou in 2010 and 2011 was conducted. Results The screening rate of neonatal CH and PKU in Wuzhou increased from 32.73% in 2010 to 69.35% in 2011, and the incidence of CH was 0.10% (56/55 331). The incidence of G6PD deficiency was not found in PKU City level) 12.57% (573/4557). After diagnosis, standardized treatment of children found no physical follow-up, mental development was significantly behind. Conclusion The screening of newborns in our city has achieved initial success, and the screening rate has been increasing year by year. CH, G6PD deficiency incidence was significantly higher than the national average, early detection of neonatal disease CH, PKU, G6PD deficiency in children as soon as possible to intervene to avoid or reduce physical fitness, mental retardation, to improve The quality of the population and the alleviation of social and family burdens have far-reaching significance.