Genetics and calcium nephrolithiasis

Giuseppe Vezzoli, Annalisa Terranegra, Teresa Arcidiacono, Laura Soldati

Research output: Contribution to journalReview article

37 Citations (Scopus)

Abstract

Calcium nephrolithiasis is one of the most prevalent uronephrologic disorders in the western countries. Studies in families and twins evidenced a genetic predisposition to calcium nephrolithiasis. Family-based or case-control studies of single-candidate genes evidenced the possible involvement of calcium-sensing receptor (CASR), vitamin D receptor (VDR), and osteopontin (OPN) gene polymorphisms in stone formation. The only high-throughput genome-wide association study identified claudin 14 (CLDN14) gene as a possible major gene of nephrolithiasis. Specific phenotypes were related with these genes: CASR gene in normocitraturic patients, VDR gene in hypocitraturic patients with severe clinical course, and CLDN14 gene in hypercalciuric patients. The pathogenetic weight of these genes remains unclear, but an alteration of their expression may occur in stone formers. Technological skills, accurate clinical examination, and a detailed phenotype description are the basis to get new insight about the genetic basis of nephrolithiasis.

Original languageEnglish
Pages (from-to)587-593
Number of pages7
JournalKidney International
Volume80
Issue number6
DOIs
Publication statusPublished - 2 Sep 2011
Externally publishedYes

Fingerprint

Nephrolithiasis
Calcium
Genes
Calcium-Sensing Receptors
Calcitriol Receptors
Phenotype
Osteopontin
Clinical Competence
Genome-Wide Association Study
Genetic Predisposition to Disease
Case-Control Studies
Weights and Measures

Keywords

  • calcium-sensing receptor
  • calciuria
  • citraturia
  • gene expression
  • kidney stones

ASJC Scopus subject areas

  • Nephrology

Cite this

Vezzoli, G., Terranegra, A., Arcidiacono, T., & Soldati, L. (2011). Genetics and calcium nephrolithiasis. Kidney International, 80(6), 587-593. https://doi.org/10.1038/ki.2010.430

Genetics and calcium nephrolithiasis. / Vezzoli, Giuseppe; Terranegra, Annalisa; Arcidiacono, Teresa; Soldati, Laura.

In: Kidney International, Vol. 80, No. 6, 02.09.2011, p. 587-593.

Research output: Contribution to journalReview article

Vezzoli, G, Terranegra, A, Arcidiacono, T & Soldati, L 2011, 'Genetics and calcium nephrolithiasis', Kidney International, vol. 80, no. 6, pp. 587-593. https://doi.org/10.1038/ki.2010.430
Vezzoli, Giuseppe ; Terranegra, Annalisa ; Arcidiacono, Teresa ; Soldati, Laura. / Genetics and calcium nephrolithiasis. In: Kidney International. 2011 ; Vol. 80, No. 6. pp. 587-593.
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