摘要
目的 :了解湖南省新生儿生天性甲状腺功能减低症 (CH)和苯丙酮尿症 (PKU)的发病情况 ,早期诊断和治疗。方法 :采用时间分辨荧光免疫法 (DELFIA)测定促甲状腺素 (TSH)浓度 ,使用盖塞利细菌抑制法或荧光法测定血苯丙氨酸 (Phe)浓度。对TSH≥ 2 0 μU/L或Phe≥ 0 .2 6mmol/L(2mg/dl)者 ,进行确诊检查 ,确诊后给予治疗并随访。结果 :湖南省部分地区 46 32 3例新生儿 ,确诊为CH 2 8例 (包括 3例TSH延期上升型CH) ,PKU患儿 1例。经治疗随访患者智能体格发育正常。结论 :新生儿筛查能早期发现PKU和CH患儿 ,及时诊断、治疗和预防智力低下发生 。
Objective:To exploring neonatal incidence rate of the congenital Hypothyroidism and phenylketonuria to early diagnosis and treatmen.Methods:Blood Sample of the sole of foot collected from newborn after 72 hours and dropped on stipulated filter paper to determine the blood thyroid stimulating hormone(TSH) by DELFIA and to determine the blood phenylalanine(Phe) concentration by Guthrie or fluorescence assay.If TSH of the newborn is higher than 20 μ/L or Phe is higher than 0.26mmol/L(2mg/dl),they would be done the diagnostic test.The newborns would be treated.Once they had been diagnosed.Results:The 46323 newborns of Hunan province had been determined in 1997 to 2000.The 28 cases of them were diagnosed as congenital hypothyroidism(the including 3 cases of TSH rising slowly)and 1 case as phenylketonuria.The all of them get proper treatment and had normal development in intelligence and growth by follow up.Conclusions:the incidence rate of congenital hypothyroidism was 1/1654;of phenylketonuria were 1/46323 in 46323 newborns of Hunan province.Neonatal Screening can let CH and PKU patients get early diagnosis and treatment and also prevent abnormal intelligence development.
出处
《中国现代医学杂志》
CAS
CSCD
2001年第8期44-45,共2页
China Journal of Modern Medicine
