苯丙酮尿症的新生儿筛查

Neonatal screening for phenylketonuria.

目的 总结苯丙酮尿症新生儿筛查和治疗经验。方法 新生儿出生后 72小时采足跟血 ,滴在规定的滤纸上 ,采用细菌抑制法或荧光法测定Phe浓度 ,Phe大于切割值 (>0 .12mmo1/L) ,召回病人再次复查滤纸血Phe ,仍高者 ,做确诊检查 ,确诊后以饮食治疗并随访。结果 1997～ 2 0 0 0年对湖南省部分地区新生儿 4 6 32 3例筛查 ,确诊PKU患儿 1例 ,结论 新生儿筛查是PKU患儿早期诊治的唯一方法。筛查出的PKU患儿经饮食治疗后体格智力发育可达正常 ,治疗越早效果越好。PKU患儿的母亲 ,再次妊娠必须通过产前诊断 ,选择正常儿出生。建立质量保证体系是对PKU筛查结果的准确性的有效保障。对初筛查阳性者 ,应了解其出生史和疾病史 ,排除假阳性可能 ,以免造成家长过分精神紧张。

Objective:To get experience for the neonatal screening and treatment for pheylketonuria(PKU). Methods:sample of the heel blood collected from newborn after 72 hours,and dropped on stipulated filter paper to determine the phe concentration of blood applying Guthrie and applying Fluoroskan. If the result is higher than the cutoff(>2mg/dl),We call back the child and reexamine. If the result it too higher and do the diagnosis test. The child will get do proper treatment of the low phenylalanine diet once has been diagnosed. Result:The screening center had begun the screening for part of the 46323 neonates of Hunan from 1997 to 2000,The conclusion was that 1 child was diagnosed as PKU. The children with PKU get do proper once has been diagnosed. Conclusion: Neonatal screening is the only method for early diagnosed and treatment of PKU. Physical and intellectual of PKU detected by screening developmented normally after the low phenylalanine diet. The treatment earlier,the effect better. When the mother who had delivered an infant with PKU gestated again, the normal infant must be chosen to deliver through the prenatal diagnosis.