泰安市新生儿苯丙酮尿症调查研究

Investigation into phenylketouria of the neonates in Taian City

目的 通过泰安市新生儿苯丙酮尿症的发生率及分布情况的研究 ,分析人群中致病基因的携带率。作为婚检及再次妊娠的孕前指导 ,从而减少PKU的出生率和生后智残的发生率 ,提高人口素质。方法 应用Guthrie细菌抑制法进行大样本初筛 ,血 phe高于切值 (4mg dl)者进一步复采血片应用该法确诊 ,同时给以低苯丙氨酸饮食长期治疗。结果 1999年 6月～ 2 0 0 2年 1月筛查 143918例新生儿 ,确诊PKU 2 3例 ,其中经典型PKU 2 1例 ,轻型PKU(高phe血症 ) 1例 ,恶性PKU(BH4D) 1例 ,所有患儿均接受我中心提供的免费治疗和指导 ,疗效良好。结论 本研究显示PKU在我市的发生率为 1 6 2 5 7,较国内及国际上该病的发生率 1 11188、1 180 0 0明显增高 ,这与我市人群中PKU致病基因的携带率明显增高有密切关系。新生儿PKU的筛查及治疗有良好的社会效益、经济效益 ,且由于PKU治疗效果显著 ,对提高人口素质大有裨益。

Objective: To study the incidence and distribution of phenylketouria of the neonates in Taian City and analyse disease-gene incidence of the population for the guidance of marital check-ups and later pregnancy in order to reduce the incidence of PKU and defective children and improve population quality. Methods: The initial screening of large specimens was made by Guthrie bacteria inhibition. The patients from the specimens over the cut-off (4 mg/dl) were diagnosed again by the method, and given a long-term Phenyla-nine(Phe)-low diet. Results: Twenty-three patients of PKU were diagnosed in the screening of 143918 newborns. Among them the typical type was 21, mild type 1 and severe type (BH4D) 1 . Free treatment and guidance were given to all of them and were effective. Conclusion: The study demonstrates that the incidence of PKU was 1/6257 in Taian City, which was much higher than 1/11188 in our country and 1/18000 in the world. This is related to the higher incidence of the disease gene of the population in Taian City. The screening of and treatment for PKU in neonates are ecnomically and socially valuable in improving the population quality as a result of effective treatment for the patients of PKU.