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 nephrolithlasis 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.
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms / Gambaro, G; Vezzoli, G; Casari, G; Rampoldi, L; D’Angelo, A; Borghi, L. - In: AMERICAN JOURNAL OF KIDNEY DISEASES. - ISSN 0272-6386. - 44:6(2004), pp. 963-986. [10.1053/j.ajkd.2004.06.030]
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms
Vezzoli G;Casari G;Rampoldi L;
2004-01-01
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 nephrolithlasis 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
