The roles of vitamin D and growth factors in the pathogenesis of renal osteodystrophy

为阐明维生素D在肾性骨营养不良中的病理生理作用，检测了维生素D受体(VDR)基因在甲状旁腺中的表达。免疫组织化学染色和原位杂交证实VDR表达降低。从手部的这些结果，我们接下来转向研究肾功能衰竭中VDR基因的多态，因为Eisman等人认为VDR基因多态可能决定VDR mRNA的稳定性。即在内含子8含有Bsm1和APAL酶切位点(分别称为B和A)，而在外显子9不含Taq1酶切位点(T)的基因可能不稳定。在慢性肾功能衰竭患者中，携带B、A、t基因的患者继发性甲状旁腺功能亢进症的发生率较高。因此，通过VDR基因多态性分析可以预测继发性甲状旁腺功能亢进症的严重程度。

To clarify the pathophysiologic roles of vitamin D in the renal osteodystrophy, the expression of vitamin D receptor (VDR) gene in parathyroid gland was examined. Decreased expression of VDR was confirmed by immunostaining and in situ hybridization methods. From these results in hands, we next turned to examine the VDR gene polymorphism in renal failure, because Eisman et al.suggested that VDR gene polymorphism might determine VDR mRNA stability. Namely, the genotype which contains Bsml and Apal cutting sites in intron 8 (referred to as B and A respectively), and does not contain Taql cutting site (t) in exon 9 might be unstable. In chronic renal failure patients, the patients who had B,A,t genotype showed more sever from of secondary hyperparathyroidism. Therefore, the severities of secondary hyperparathyroidism may be forecasted by the analysis of VDR gene polymorphism.