Update on the genetics of nephrolithiasis

Giuseppe Vezzoli, Teresa Arcidiacono, Vera Paloschi, Annalisa Terranegra, Rita Biasion, Laura Soldati

Research output: Contribution to journalShort survey

3 Citations (Scopus)

Abstract

Genetic studies of calcium kidney stones evidenced the possible involvement of calcium-sensing receptor gene, vitamin D receptor gene and bicarbonate-sensitive adenylate cyclase gene, but it is uncertain which specific polymorphisms could be responsible. Thus, further studies are required to better assess the involvement of these or other genes and the interactions between different genes and between genes and environment. In addition to research in humans, the study of different strains of knock-out mice let us include the gene of phosphate reabsorption carrier NPT2, caveolin-1, protein NHERF-1, osteopontin and Tamm-Horsfall protein among the possible determinants. Further steps in the knowledge of calcium stone causes may be done using the instruments that the modern biotechnology and bioinformatics have made available to the researchers.

Original languageEnglish
Pages (from-to)110-113
Number of pages4
JournalClinical Cases in Mineral and Bone Metabolism
Volume5
Issue number2
Publication statusPublished - May 2008
Externally publishedYes

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Keywords

  • Calcium
  • Genetics
  • Kidney stones
  • Oxalate

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine

Cite this

Vezzoli, G., Arcidiacono, T., Paloschi, V., Terranegra, A., Biasion, R., & Soldati, L. (2008). Update on the genetics of nephrolithiasis. Clinical Cases in Mineral and Bone Metabolism, 5(2), 110-113.