苯丙酮尿症48例  

Clinical Analysis of 48 Children with Phenylketonuria

作　　者：陈国庆[1] 田媛[1] 

机构地区：[1]泰安市妇幼保健院新生儿疾病筛查中心,山东泰安271000

出　　处：《实用儿科临床杂志》2006年第8期483-484,共2页Journal of Applied Clinical Pediatrics

摘　　要：目的探讨泰安地区新生儿苯丙酮尿症(PKU)的发病率及致病基因携带率。方法应用Guthrie细菌抑制法,对苯丙氨酸(phe)水平>20 mg/L的患儿进一步复查,作四氢生物蝶呤(BH4)负荷实验、尿蝶呤分析、二氢蝶啶还原酶活性检测,以此鉴别四氢生物蝶呤缺乏症(BH4D)。免费给予低phe饮食和药物治疗,定期检测血phe水平及体格和智能发育。结果共筛查355 615例新生儿,确诊PKU 48例,PKU在泰安地区发病率为1/7408,致病基因携带者为1/48。PKU患儿体能和智能发育各项指标与正常儿童均无显著性差异(P均>0.05)。结论新生儿PKU的筛查及早期治疗,是减少出生缺陷、提高人口素质的重要措施之一。ObJective To explore the incidence and earring gene rate of phenylketonuria（PKU）in newborns in Tai＇an area. Methods Tetrahydrobioptefin deficiency （BH4D） was discriminated using Guthrie bacteria inhibitionassay method, BH4 bear test, analysis of neopterin and biopterin in urine and dihydropteridine reductase （DHPR） active test in order to check phenylalanine（phe）, phe level 〉 20 mg/L again. Children without treatment regulated exam for phe concentration level in blood and test for physical and mental capability development. Results Forty- eight children with PKU were diagnosed in 355 615 newborns who were collected from June 1999 to April 2005. The incidence rate of PKU was 1/7408, carriers with PKU gene was 1/48. There was no significant difference in physical and mental condition compared with that of normal children. Conclusions The treatment results for children with PKU is significant. It has good social and economic value. It is one of the important measures for redudng infant defect and improving population quality.

关 键 词：苯丙酮尿症 新生儿疾病筛查 发病率 智能体能发育 

分 类 号：R725.8[医药卫生—儿科]