杭州市儿童晚发佝偻病发病维生素D受体基因多态性及治疗研究

目的:研究维生素D受体基因起始密码子(VDRSC)多态性在晚发佝偻病组及正常对照组中分布频率的差异,探讨晚发佝偻病的遗传易感因素,探索其治疗的有效方法。方法:用聚合酶链反应——限制性长度多态性(RFLP)分析晚发佝偻病组176人,正常对照组100人,VDRSC多态性的分布频率,患儿分4组用不同方法治疗。治疗1组:维生素D60万IU/次imst+碳酸钙1g/d,口服,3个月。治疗2组:维生素D60万IU/次imst。含钙丰富的食物3个月。治疗3组:多种维生素(含维生素D400IU/天)口服,3个月。治疗4组:平衡膳食,多晒太阳,加强体育锻炼,3个月。结果:晚发佝偻病组及正常对照组VDRSC基因型分布频率差异有统计学意义(χ2=10.365,P<0.01);等位基因分布频率差异也有统计学意义(χ2=6.987,P<0.01),患病组FF型频率60.8%明显高于正常对照组(19.8%,P<0.05);晚发佝偻病组F型67.8%明显高于正常对照组(46.9%,P<0.05)。多项分类Logistic回归分析结果显示,在调整其他危险因素后,FF型仍是晚发佝偻病的危险因素,相对危险度OR=3.12。4组治疗疗效基本相似,无统计学差异。结论:VDRSC多态性决定晚发佝偻病的遗传易感性,各种计量补钙、维生素D治疗效果相似。

Relation of junior rickets of vitamin D deficiency come of vitamin D diversity and treating in childer

Objective:To Study VDRSC diversity in junior rickets of vitamin D deficiency and healthy individuals discrepancy in distributed frequency.And to explore junior rickets of vitamin D deficiency heredity easily occur and the method of effective treated.Methods:Using PCR-RFLP analyse junior rickets of vitamin D deficiency 176 and 100 healthy individuals VDRSC,Sufferer dispersed four groups,Group 1 vitamin D 60IU/d im st+CaCO3 1g/d in three months;Groups 2:vitamin D 60IU/im st+food of plentiful Ca in three months;Groups 3:compound vitamin(D400 IU/d)P.O in three months;Groups 4:Balanced food and more sunshine and strengthen body exercise in three months.Results:Junior rickets of vitamin D deficiency and healthy individuals VDRSC marked divergence in statistics(χ2=10.365 P=0.01);equate gene marked divergence in statistics(χ2=6.987 P=0.01);junior rickets of vitamin D deficiency FF frequency 60.8% marked higher healthy individuals(19.8% P=0.005);junior rickets of vitamin D deficiency F 67.8% marked higher healthy individuals(46.9% P=0.005).varied classify Logistic retrieve,FF is risk factor for junior rickets of vitamin D deficiency,opposite risk level(OR)= 3.12.Groups curative effect does not divergence in statistics.Conclusion:VDRSC diversity decide junior rickets of vitamin D deficiency heredity easily occur.Different treatments effect similar.