甲状腺球蛋白基因对CH患儿诊断、早期干预疗效及影响因素分析

Effect and influencing factors analysis of thyroid globulin gene for diagnosing and early intervening on children with congenital hypothyroidism

目的:探究甲状腺球蛋白基因(TG)筛查对先天性甲状腺功能低下(CH)患儿诊断并早期干预疗效,分析患病影响因素。方法:本院出生后确诊为先天性甲状腺功能减低症43例患儿,根据治疗时机不同分为<30 d(n=25例)组和≥30 d组(n=18例),进行TG筛查及早期治疗,logistic回归分析患病影响因素。结果:43例CH患儿中筛查出TG突变36例(83.7%),7例(16.3%)未检出。<30 d组CH患儿6月时发育商(DQ)(95.81±4.12)值高于≥30 d组患儿,两组CH患儿在1岁、2岁时自身DQ值比较未见变化(P>0.05),但<30 d组高于≥30 d组(P<0.05)。<30 d组CH患儿体重在6月(7.84±0.48)kg、1年(11.31±1.06)kg、2年(13.16±1.55)kg时均大于≥30 d组患儿,身长在6月(68.25±2.46)cm、1年(76.47±2.11)cm、2年(90.39±2.43)cm时均大于≥30 d组患儿(均P<0.05)。两组CH患儿在6月、1岁、2岁时血清促甲状腺素、游离三碘甲状腺原氨酸、游离甲状腺素无差异(P>0.05)。多因素分析,孕妇年龄≥35岁、妊娠期并发甲状腺疾病、甲状腺家族史以及用药史均为CH患病主要危险因素。结论:TG基因突变在CH患儿中检出率较高,可帮助CH患儿病因诊断。早期治疗干预有助于患儿生长发育。孕妇年龄、妊娠期并发甲状腺疾病、甲状腺家族史以及用药史等为CH患病主要危险因素。

Objective:To investigate the effect of thyroid globulin(TG)gene screening for diagnosing and early interventing on children with congenital hypothyroidism(CH),and to study its influencing factors.Methods:43 children diagnosed as CH were selected and were divided into group A(<30 d,n=25)and group B(>30 d,n=18)according to treatment timing.All children were given TG screening and early treatment.Logistic regression analysis was used to analyze the influential factors of CH.Results:Among the 43 children with CH,there were 36(83.7%)children with TG gene mutations,and 7(16.3%)children without TG gene mutations.The value of development quotient(DQ)of children with 6 months old in group A was 95.81±4.12,which was significant higher than that of children in group B(P<0.05).When the age of 1 year and 2 years old,the value of DQ of all the children in both groups had no change(P>0.05),but the DQ value of the children in group A was significant higher than that of the children in group B(P<0.05).The body mass index(BMI)of children in group A when 6 months old,1 year old,and 2 years old were 7.84±0.48 kg/m^2,11.31±1.06 kg/m^2,and 13.16±1.55 kg/m^2,respectively,which were significant higher than those of children in group B(P<0.05).The body length of children in group A when 6 months old,1 year old,and 2 years old were 68.25±2.46 cm,76.47±2.11 cm,and 90.39±2.43 cm,which were significant longer than those of children in group B(P<0.05).Multiple factor analysis showed that maternal age≥35 years,pregnancy complicated thyroid disease,family thyroid history,and medication history were the main risk factors of CH of children.Conclusion:TG level can help to clinical diagnose CH of child.In addition,early treatment intervention is conducive to growth and development of children with CH.The maternal age,pregnancy complicated thyroid disease,thyroid family history,and medication history are the main risk factors for CH.