G Vezzoli

..Technological skills, accurate clinical examination, and a detailed phenotype description are the basis to get new insight about the genetic basis of nephrolithiasis...

..Because bone loss occurs earlier in women, this work explores the relationship between bone mineral density (BMD) and calcium absorption in premenopausal and postmenopausal hypercalciuric stone-forming women...

..Calcium-sensing receptor gene (CaSR) is a candidate to explain susceptibility to calcium kidney stones. Thus, we studied CaSR gene single-nucleotide polymorphisms (SNPs) and haplotypes associated with stones...

..To confirm their association with nephrolithiasis, we tested patients with primary hyperparathyroidism (PHPT)...

..In order to assess the eventual role of VDR gene start codon polymorphisms in stone production, we analyzed the genotype-phenotype association in a group of patients with calcium kidney stones...

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..Sclerochoroidal calcifications may be favored by the low calcium excretion, which is associated with normal intestinal calcium absorption in patients with Gitelman's syndrome...

..In patients with CKD and hyperparathyroidism, PTH may be considered a uremic toxin exerting its effects mainly by increasing cellular calcium. Thus, hyperparathyroidism is confirmed to be a target for the conservative therapy of CKD...

..However, the phenotype of type 5 Bartter syndrome may manifest with variable severity, not directly related with the in vitro potency of the CaSR activating mutation...

..This review provides a brief update on genetic studies of primary hypercalciuria. We consider their possible implications for the pathogenesis and complications of primary hypercalciuria...

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..Drinking Sangemini water may have a slight effect on calcium excretion and may not inhibit bone turnover in the short term. The lesser effect of Sangemini water on calcium excretion could be useful in the treatment of osteoporosis...

..01). These findings suggest that Sr absorption and excretion reflect the regulation of Ca metabolism, but some differences in renal handling of the two ions may exist...

..0001). Our findings indicate that R990G polymorphism results in a gain-of-function of the calcium-sensing receptor and increased susceptibility to primary hypercalciuria...

..Uremia displays increased cytosolic free calcium ([Ca2+]i) in many different cell types, supporting the hypothesis of an altered Ca2+ transport modifying the functional activity of calcium signaling pathway...

..In kidneys, its protective effect includes the stimulation of diuresis and phosphate retention, along with the potential prevention of calcium precipitation and deposition in kidney tubules and interstitium...

..Therefore, phosphate retention appears as the most detrimental factor affecting arteries in CKD patients. There is no specific therapy to revert soft tissue calcification, but calcification must be prevented in the early stages of CKD...

..Reduced resistance to PTH could contribute to this phenomenon...

..This effect was similar to those induced by forskolin, which stimulates cAMP generation, and by PMA, which stimulates protein kinase C...

..Further knowledge of the causes of calcium stones may be obtained using the instruments that modern biotechnology and bioinformatics have made available to researchers...

..Finally, after applying arbitrary cut-off points to the Na-K-Cl cotransport values, segregation analysis showed that some major gene, recessive for the high allele, also contributes to the phenotypic value of Na-K-Cl cotransport...

..However, the expectations of the scientific community are turned to the advances in genetics and to the findings of genetic studies, which may provide diagnostic tools and criteria to define the risk profile of the single individual...

..Data concerning the association between polymorphic variants of the gene encoding the calcium-sensing receptor (CaSR) and clinical characteristics of PHPT are not conclusive...

..Arg990Gly polymorphism could facilitate activation of CaSR and increase Ca excretion and susceptibility to idiopathic hypercalciuria...

..The aim of the present study was to investigate the interactions between the circulating concentrations of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] and the mRNA concentration of its specific nuclear receptor in human leukocytes...

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..Furthermore, they suggest that osteoblast activity may be modulated by AA...

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..To reduce the impact of such adverse effects while retaining anti-PTH activity, 1,25(OH)2 D3 analogues with lower calcemic effects have been synthesized and are now available for clinical use...

..We conclude that AA could activate an erythrocyte voltage-independent Ca(2+) transport via an intermediate product of cyclooxygenase pathway; however, a direct interaction with the membrane lipid-protein cannot be excluded...