TY - JOUR
T1 - Genetics of hypercalciuria and calcium nephrolithiasis
T2 - From the rare monogenic to the common polygenic forms
AU - Gambaro, Giovanni
AU - Vezzoli, Giuseppe
AU - Casari, Giorgio
AU - Rampoldi, Luca
AU - D'Angelo, Angela
AU - Borghi, Loris
PY - 2004/12
Y1 - 2004/12
N2 - 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.
AB - 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.
KW - Anion exchanger protein
KW - calcium-sensing receptor (CASR)
KW - complex disease
KW - Dent's disease
KW - hypercalciuria
KW - monogenic disorder
KW - Na -phosphate cotransporter
KW - nephrocalcinosis
KW - vitamin D receptor (VDR)
UR - http://www.scopus.com/inward/record.url?scp=9344242934&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=9344242934&partnerID=8YFLogxK
U2 - 10.1053/j.ajkd.2004.06.030
DO - 10.1053/j.ajkd.2004.06.030
M3 - Article
C2 - 15558518
AN - SCOPUS:9344242934
VL - 44
SP - 963
EP - 986
JO - American Journal of Kidney Diseases
JF - American Journal of Kidney Diseases
SN - 0272-6386
IS - 6
ER -