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

doi:10.1053/j.ajkd.2004.06.030

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

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	963-986
Number of pages	24
Journal	American Journal of Kidney Diseases
Volume	44
Issue number	6
DOIs	https://doi.org/10.1053/j.ajkd.2004.06.030
Publication status	Published - 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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Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms

Abstract

Keywords

ASJC Scopus subject areas

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