PubMed · 14059494
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N FELLER, D KIMCHI, M ARONHEIM. 1963. [HYPERPARATHYROIDISM].. https://pubmed.ncbi.nlm.nih.gov/14059494/
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The lifetime prevalence of urolithiasis is approximately 12% for men and 7% for women in the United States and seems to be increasing; the cost of managing kidney stones continues to escalate. The most common kidney stones continue to be composed primarily of calcium and are an admixture of phosphate and oxalate. Of these, calcium oxalate stones are the most predominant. This review will focus only on the pathogenesis and medical management of calcium oxalate stones.
Idiopathic hypercalciuria is a complex disease resulting from an interaction between environmental and genetic factors. Recently, the relationship between vitamin D receptor ( VDR) alleles and calcium homeostasis has been investigated. This study was conducted to explore the association of VDR gene polymorphism with the risk of absorptive hypercalciuria (AH). We investigated the VDR gene polymorphisms, ApaI, BsmI, and TaqI, in relation to intact parathormone (PTH), osteocalcin, and 25-hydroxyvitamin D in 80 children (42 males, 38 girls) with AH and in 86 healthy children without hypercalciuria. A significant difference in the ApaI genotype was observed between the AH group and the control group ( chi(2)=7.21, P=0.027). The AA genotype was associated with a 3.5-fold increased risk for idiopathic hypercalciuria compared with the Aa/aa genotype (odds ratio 3.5, 95% confidence interval 1.1-11). The BsmI and TaqI polymorphisms did not show any significant association with AH. Serum osteocalcin levels were significantly higher in the group with the AA genotype compared with those with the Aa or aa genotype ( P=0.02, P=0.05, respectively). The results indicate that the ApaI AA genotype of the VDR gene is not only associated with AH but is also related to differences in serum osteocalcin.