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目的:了解缙云县先天性甲状腺功能低下和苯丙酮尿症发生情况,达到早诊断、早治疗、早康复。方法:收集全县10年12个采血医疗单位的有效血片,递送到浙江省新生儿疾病筛查中心实验室统一检测2种先天性代谢性疾病,阳性病例返还当地追踪随访,确诊病例省中心统一诊疗。结果:缙云县10年共筛查新生儿33 142例,覆盖率平均达74.12%,确诊甲低29例,发生率为0.88‰,苯丙酮尿症未查出。该县的发病情况可能与出生季节和生活地区有关,有待进一步探讨。结论:扩展筛查面,加强对可疑患儿的追踪随访,确诊病例的重点诊疗,从而不断减少发育落后儿童,提高甲低儿童生活质量。
Objective: To understand the occurrence of congenital hypothyroidism and phenylketonuria in Jinyun County, and to achieve early diagnosis, early treatment and early recovery. Methods: The effective blood films collected from 12 blood collection medical units in the county for 10 years were collected and sent to Zhejiang Neonatal Disease Screening Center for testing two kinds of congenital metabolic diseases. The positive cases were returned to the local follow-up and the confirmed cases were provincial centers Unified diagnosis and treatment. Results: A total of 33 142 newborns were screened in Jinyun County for 10 years. The coverage rate was 74.12% on average, and 29 cases were diagnosed as hypothyroidism at a rate of 0.88 ‰. Phenylketonuria was not detected. The incidence of the county may be related to the birth season and living areas, pending further study. Conclusion: Expand the screening surface, to strengthen follow-up of suspicious children, diagnosis and treatment of key cases confirmed, thereby reducing the development of under-aged children and improve the quality of life of children with hypothyroidism.