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