title: Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.
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.
authors.affiliation: Department of Biomedical and Surgical Sciences, Division of Nephrology, University of Verona, Verona, Italy. giovanni.gambaro@univr.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gambaro
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vezzoli
authors.forename: Giorgio
authors.initials: G
authors.lastname: Casari
authors.forename: Luca
authors.initials: L
authors.lastname: Rampoldi
authors.forename: Angela
authors.initials: A
authors.lastname: D'Angelo
authors.forename: Loris
authors.initials: L
authors.lastname: Borghi
mesh_terms: D000818:Animals; D002118:Calcium / Q000652:urine*; D002128:Calcium Metabolism Disorders / Q000235:genetics*; D005826:Genetics, Medical; D006801:Humans; D009397:Nephrocalcinosis / Q000235:genetics*; D010641:Phenotype
chemical_list: D002118:Calcium