维生素D受体基因多态性与儿童肾病综合征骨代谢异常的相关性

刘玉娇; 李琪

维生素D受体基因多态性与儿童肾病综合征骨代谢异常的相关性

刘玉娇,
李琪

昆明医科大学第一附属医院儿科

基金项目:

基金：云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (2014FZ016);

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出版历程
- 收稿日期: 2017-09-12

The Correlation between Vitamin D Receptor Gene Polymophism and Bone Metabolism Disorder in Children with Nephrotic Syndrome

Liu Yu Jiao ,
Li Qi

Funds:

基金：云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (2014FZ016);

摘要

摘要: 目的研究VDR基因多态性与儿童肾病人群骨转化标志物的相关性;观察活性维生素D的干预治疗是否受VDR基因多态性的影响.方法采用聚合酶链反应限制性片段长度多态性 (PCR—RFLP) 技术, 检测未用激素组患儿和已用激素2周组患儿VDR基因型, 并检测70例肾病综合征患儿及30例正常儿童 (对照组) 的骨代谢指标, 比较未用激素组、已用激素2周组和对照组间骨代谢指标的差异.将70例肾病综合征患儿按照基因型分为AA+Aa组、aa组, 研究不同基因型的骨代谢指标的差异.对肾病综合征患儿给予相同剂量骨化三醇治疗2周后复测骨代谢指标, 研究不同基因型间骨代谢指标改善情况有无差异.结果 (1) 肾病综合征中AA+Aa基因型患儿降钙素显著低于aa基因型组 (P<0.05) ;aa基因型患儿25 (OH) D3显著低于AA+Aa基因型患儿 (P<0.05) ; (2) 肾病综合征患儿经同等剂量骨化三醇治疗2周后:AA+Aa基因型患儿降钙素、25 (OH) D3治疗后较治疗前显著增高 (P<0.05) .结论 VDR基因ApaⅠ位点多态性可能是影响骨代谢异常的遗传易感因素, AA及Aa基因型可能是骨代谢异常的保护基因.AA及Aa基因型患儿对骨化三醇治疗反应好.
- 儿童肾病综合征 /
- 维生素D受体 /
- 维生素D受体基因多态性 /
- 骨代谢
Abstract: Objective To study the correlation between VDR gene polymorphism and the transformation of bone markers in children with nephrotic syndrome and to observe whether active intervention treatment of vitamin D with nephrotic syndrome is influenced by VDR gene polymorphism. Methods We used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technology to detect the VDR genotypes of70 children with nephrotic syndrome (one group received hormone for 2 weeks and the other received no hormone therapy) .Then we detected bone metabolism index among patients with nephrotic syndrome and 30 normal children (control group) and compared the index between the two groups with and without hormone therapy.We divided 70 children with nephrotic syndrome into the AA + Aa genotype group and the aa genotype group to study the difference between various genotypes of bone metabolism indexes. After retesting bone metabolism index of those children receiving the same dose of calcitriol therapy after 2 weeks, we divided them into three groups AA genotype, Aa genotype and aa genotype to detect the changes of bone metabolism index in different genotypes.Results (1) The calcitonin and serum phosphorus of children with AA + Aa genotype were significantly lower than those of childrenwith aa genotype (P < 0.05) ; 25 (OH) D3 of children with aa genotype was significantly lower than that of ones with Aa + Aa genotype (P < 0.05) . (2) The changes of bone metabolism index in children with nephrotic syndrome after receiving the same dose of calcitriol for 2 weeks:the calcitonin and 25 (OH) D3 in AA + Aa genotype group were significantly higher after treatment (P <0.05) .Conclusions Vitamin D receptor gene Apa Ⅰ polymorphism may be a genetic susceptibility factors affecting bone metabolic abnormalities. AA and Aa genotype may be a protective factor of bone metabolic abnormalities.The AA+Aa genetype of Vitamin D receptor gene Apa Ⅰ polymorphism response to treatment of calcitriol is positive.
- Nephrotic syndrome in children /
- Vitamin D receptor /
- Vitamin D receptor gene polymorphism /
- Bone metabolism

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参考文献(12)

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