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目的分析泰安市新生儿疾病筛查的发病率、分布及治疗等临床流行病学特征。方法对1999年6月-2011年3月在泰安市辖区内所生产的新生儿673 770例进行先天性甲状腺功能低下症(CH)和高苯丙氨酸血症(HPA)的筛查。2010年8月-2011年3月对41 766例新生儿进行先天性肾上腺皮质增生症(CAH)和葡萄糖6磷酸脱氢酶缺乏症(G6PD)筛查。对筛查出的患儿免费6年治疗。结果 1999-2011年平均筛查率99.48%,覆盖率100%。检出患儿CH185例,发病率为1:3 687;HPA103例,发病率1:6 541。41 766例新生儿检出G6PD10例,发病率1:4 177;CAH未检出。全市86个行政乡镇、7个城区,有66个乡镇、7城区有CH患儿检出;49个乡镇、7城区有HPA检出。在保偿治疗期间患儿治疗率100%,治疗有效率100%,持续治疗率96.5%。经规范治疗的患儿体格智力与正常儿童无明显差异。大于6岁的两病患儿(不再免费治疗),70例永久性CH患儿能坚持规范治疗,47例HPA患儿定期来泰安市妇幼保健院购买无苯丙氨酸营养品的11例,其中达到规范饮食治疗的6例。结论争取政策支持、政府重视,提高新生儿疾病筛查率和治疗率,扩展新生儿疾病筛查病种,是进一步降低出生缺陷,提高人口素质的重要措施。
Objective To analyze the incidence, distribution and treatment of neoplasm disease screening in Tai’an City and other clinical epidemiological features. Methods A total of 673 770 newborn infants born in the district of Tai’an from June 1999 to March 2011 were screened for congenital hypothyroidism (CH) and hyperphenylalaninemia (HPA). From August 2010 to March 2011, 41 766 newborns were screened for congenital adrenal hyperplasia (CAH) and glucose 6-phosphate dehydrogenase deficiency (G6PD). The screening of children with free 6-year treatment. Results The average screening rate from 1999 to 2011 was 99.48% with 100% coverage. CH185 cases detected in children, the incidence was 1: 3 687; HPA 103 cases, the incidence of 1: 6 541.41 766 cases of neonatal G6PD detected in 10 cases, the incidence of 1: 4 177; CAH was not detected. The city’s 86 administrative villages and towns, 7 urban areas, 66 townships, 7 city CH children were detected; 49 townships, 7 cities have HPA detected. In the treatment of children during the treatment rate of 100%, the effective rate of 100%, sustained treatment rate of 96.5%. The normative treatment of children with physical intelligence and normal children no significant difference. More than 6-year-old children with two diseases (no longer free treatment), 70 cases of permanent CH children can adhere to standard treatment, 47 cases of HPA children regularly to Tai’an MCH to buy 11 cases of non-phenylalanine nutrition , Which reached the standard diet therapy in 6 cases. Conclusion Winning policy support, attaching importance to the government, improving neonatal screening rate and treatment rate, and expanding newborn screening disease are important measures to further reduce birth defects and improve population quality.