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目的了解包头市新生儿苯丙酮尿症发生率及治疗措施。方法采集出生后72 h、充分哺乳6次以上的新生儿足跟血,采用荧光法测定血苯丙氨酸(phe)含量,对PKU患儿给予低phe饮食治疗。结果在163684例新生儿中,确诊PKU患儿29例,其中经典型24例,非经典型5例,总发病率为1:5644。经PKU患儿专用低phe食物干预治疗,患儿临床各项指标均恢复正常水平。结论包头市PKU发病率高于全国平均水平,对新生儿进行PKU早期诊断,采用低phe饮食干预治疗,对于阻断病情发展,改善PKU预后具有重要作用。
Objective To understand the incidence and treatment of neonatal phenylketonuria in Baotou. Methods The neonatal heel blood samples were collected 72 h after birth and fully breast-fed for more than 6 times. The levels of paraheine (phe) were measured by fluorescence and the patients with PKU were given low-phe diet. Results Among 163,684 newborns, 29 cases of PKU were diagnosed, of which 24 were classic and 5 were nonclassical. The overall incidence was 1: 5644. After PKU children with low phe food intervention, children with clinical indicators returned to normal. Conclusion The incidence of PKU in Baotou is higher than the national average. Early diagnosis of PKU in neonates and intervention with low-phe diet play an important role in blocking the progression of the disease and improving the prognosis of PKU.