Document Detail

Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones.
MedLine Citation:
PMID:  12018632     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: A linkage has been detected between vitamin D receptor (VDR) locus and calcium kidney stone disease. 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. METHODS: One hundred and fifty-five patients were studied. VDR genotypes were characterized at the translation start site by restriction fragment length polymorphism analysis, using endonuclease FokI. Phenotypes of calcium-phosphate metabolism were compared in patients with different genotypes: strontium enteral absorption (used as a surrogate marker for calcium absorption), bone mineral density (BMD), calcium and phosphate excretion were measured. RESULTS: Genotype distribution was not different in hypercalciuric and normocalciuric stone formers. Enteral strontium absorption, calcium excretion and BMD did not vary with the patient's genotype. Serum concentrations of phosphate (p=0.022) and renal threshold for phosphate excretion (p=0.026) were lower in patients with genotype FF (homozygous for the absence of the FokI site) than in those with genotype ff (homozygous for the presence of the FokI site). The lower phosphatemia was confirmed in FF hypercalciuric patients, but not in normocalciuric ones. Serum concentrations of phosphate and calcitriol in the group of hypercalciuric patients were inversely correlated with the genotype FF. CONCLUSIONS: The FokI genotype does not appear to be involved in the causes of idiopathic hypercalciuria and kidney stones. Hypercalciuric patients with FF genotype may be a subgroup with low plasma concentrations of phosphate, predisposed to tubular leakage of phosphate.
Giuseppe Vezzoli; Laura Soldati; Maria Carla Proverbio; Donatella Adamo; Alessandro Rubinacci; Giuseppe Bianchi; Stefano Mora
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of nephrology     Volume:  15     ISSN:  1121-8428     ISO Abbreviation:  J. Nephrol.     Publication Date:    2002 Mar-Apr
Date Detail:
Created Date:  2002-05-20     Completed Date:  2003-01-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9012268     Medline TA:  J Nephrol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  158-64     Citation Subset:  IM    
Division of Nephrology Dialysis and Hypertension, San Raffaele Scientific Institute, Milan, Italy.
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MeSH Terms
Calcium / urine
Codon, Initiator / genetics*
Deoxyribonucleases, Type II Site-Specific / genetics*
Kidney Calculi / genetics*
Middle Aged
Polymorphism, Genetic*
Receptors, Calcitriol / genetics*
Reg. No./Substance:
0/Codon, Initiator; 0/Receptors, Calcitriol; 7440-70-2/Calcium; EC 3.1.21.-/endodeoxyribonuclease FokI; EC, Type II Site-Specific

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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