特发性矮小患儿生长激素受体基因Ex3多态性与重组人生长激素疗效分析  

Relationship between the polymorphism of growth hormone receptor Ex3 and the efficacy of rhGH treatment in children with idiopathic short stature

作　　者：陆文丽[1] 王伟[1] 王德芬[1] 肖园[1] 黄晓萍[1] 董治兰[1] 

机构地区：[1]上海交通大学医学院瑞金医院儿内科,上海200025

出　　处：《中国当代儿科杂志》2010年第9期730-733,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：目的观察生长激素受体(GHR)基因Ex3多态性与重组人生长激素(rhGH)治疗青春期前特发性矮小(ISS)疗效间的相关性。方法青春期前ISS患儿30例,均采用rhGH[0.116±0.02IU/(kg/d)]治疗;其外周血白细胞中抽提基因组DNA,采用多重PCR扩增GHR基因Ex3区域。对不同基因型患儿治疗后生长速率(GV)、年龄对应身高标准差积分(HtSDSCA)及骨龄对应身高标准差积分(HtSDSBA)、预测终身高进行比较。结果 rhGH治疗半年后d3/d3基因型组GV较fl/fl基因型组明显增加[(6.3±1.6)cm/年vs(3.4±0.5)cm/年,P<0.05]。结论 ISS患儿GHREx3基因型与rhGH促生长疗效存在一定关联,d3/d3等位基因型患儿用rhGH治疗后生长速率明显优于fl/fl等位基因型。Objective To assess the influence of growth hormone receptor （GHR） Ex3 genotype on the short-term response to recombinant human growth hormone （rhGH） therapy in children with idiopathic short stature （ISS）.Methods Thirty prepubertal children with ISS receiving rhGH treatment [0.116 ± 0.02 IU/（kg/d） ]were randomly recruited.The GHR Ex3 locus was genotyped using a PCR multiplex assay.The growth data including growth velocity,height SDS for chronological age （HtSDSCA）,height SDS for bone age （HtSDSBA） and predict final height were compared in children with different GHR genotypes 6 months after rhGH treatment.Results After 6 months of rhGH treatment,the children with ISS carrying d3 /d3 alleles showed a significantly higher increment in growth velocity than those carrying fl/fl alleles （6.3 ± 1.6 cm/year vs 3.4 ± 0.5 cm/year;P〈0.05）.Conclusions The polymorphism in GHR Ex3 is associated with the responsiveness to rhGH treatment,showing that the growth velocity in ISS children with d3 /d3 genotype is significantly higher than those with fl/fl genotype.

关 键 词：特发性矮小 重组人生长激素 生长激素受体 儿童 

分 类 号：R725.8[医药卫生—儿科]