Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms

Giovanni Gambaro, Giuseppe Vezzoli, Giorgio Casari, Luca Rampoldi, Angela D'Angelo, Loris Borghi

Research output: Contribution to journalArticlepeer-review

Abstract

Idiopathic calcium nephrolithiasis is a multifactorial disease with a pathogenesis that involves a complex interaction of environmental and individual factors. This review discusses what is known about monogenic renal calcium stone-related disorders, provides an update on genetic research in calcium nephrolithiasis and such intermediate phenotypes as idiopathic hypercalciuria, discusses the problems that these conditions pose to clinicians and geneticists interested in their pathogenesis, and proposes some method tools potentially useful in this research frame of reference.

Original languageEnglish
Pages (from-to)963-986
Number of pages24
JournalAmerican Journal of Kidney Diseases
Volume44
Issue number6
DOIs
Publication statusPublished - Dec 2004

Keywords

  • Anion exchanger protein
  • calcium-sensing receptor (CASR)
  • complex disease
  • Dent's disease
  • hypercalciuria
  • monogenic disorder
  • Na -phosphate cotransporter
  • nephrocalcinosis
  • vitamin D receptor (VDR)

ASJC Scopus subject areas

  • Nephrology

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