顺德地区新生儿先天性甲状腺功能减退症和高苯丙氨酸血症调查

Research on congenital hypothyroidism and hyperphenylalaninaemia in newborn of Shunde area

目的分析顺德地区先天性甲状腺功能减退症(CH)和高苯丙氨酸血症(HPA)的发病情况及治疗效果。方法回顾性分析顺德地区2001年7月至2012年9月260 765例新生儿CH、HPA初筛、确诊结果,对接受治疗的患儿进行随访。结果 260 765例新生儿中,确诊CH 121例,发病率1/2 155;确诊HPA 7例,发病率1/37 251,其中经典型苯丙酮尿症2例、轻～中度HPA 3例、四氢生物蝶呤缺乏症2例。所有确诊患儿经有效治疗,未见智力及体格发育障碍。结论顺德地区CH发病率较高,HPA发病率较低;顺德地区CH初筛促甲状腺激素临界值定为8mIU/L较为适合;早期诊断和鉴别诊断有利于指导治疗和保证疗效。

Objective To investigate the incidence and therapeutic efficacy of hyperphenylalaninaemia（HPA） and congenital hypothyroidism（CH） in Shunde area.Methods Screening and diagnostic data of CH and HPA were retrospectively analyzed among 260 765 cases of neonatus,born from Jul.2001 to Sep.2012,and follow-up visit was performed in neonatus receiving therapy.Results In 260 765 cases of neonatus,121 cases were diagnosed with CH,the incidence was 1/2 155,and 7 cases were diagnosed with HPA,the incidence was 1/37 251,including 2 cases with typical phenylketonuria,3 cases with light to moderate HPA and 2 cases with tetrahydrobiopterin deficiency.After effective therapy,no maldevelopment of intelligence and physique could be found among neonatus with disease.Conclusion The incidence of CH might be high in this area,but that of HPA might be low.Taking 8 mIU/L as cut-off value of thyroid-stimulating hormone for the screening of CH could be appropriate in this area.Early diagnosis and differential diagnosis might be helpful for guiding therapy and ensuring therapeutic efficacy.