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目的了解我市苯丙酮尿症的筛查、诊断、治疗和随访的意义及问题。方法对衡水市2003年8月～2012年8月筛查的404376例新生儿的资料进行回顾性总结。结果新生儿疾病筛查是早期诊断苯丙酮尿症的关键,早发现、早诊断、早治疗是防止智能低下的关键。结论新生儿疾病筛查是早期发现遗传代谢病的有效方法,早期的诊断和治疗能明显改善预后。
Objective To understand the significance and problems of screening, diagnosis, treatment and follow-up of phenylketonuria in our city. Methods The data of 404376 newborns screened from August 2003 to August 2012 in Hengshui City were retrospectively reviewed. Results Neonatal disease screening is the key to early diagnosis of phenylketonuria. Early detection, early diagnosis and early treatment are the keys to prevent mental retardation. Conclusion Neonatal disease screening is an effective method for early detection of genetic metabolic diseases. Early diagnosis and treatment can significantly improve the prognosis.