Genetics of primary hypercalciuria

Falchetti, Alberto and Vezzoli, Giuseppe and Gambaro, Giovanni (2004) Genetics of primary hypercalciuria. Clinical cases in mineral and bone metabolism, 1 (1). pp. 27-33. ISSN 1971-3266

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Abstract

Primary hypercalciuria is a highly heterogeneous complex metabolic disorder and it can be schematically represented by three general distinct clinical entities, such as absorptive hypercalciuria, renal hypercalciuria and resorptive hypercal- ciuria. In fact, other than absorptive hypercalciuria, hypercal-ciuria has been described in several monogenic syndromes such as Dent’s disease, Bartter’s Syndrome, Hereditary Hy-pomagnesaemia- ypercalciuria Syndrome, hypercalciuric syndromes due to mutations of calcium sensing receptor gene such as Familial Hypocalcaemia with Hypercalciuria Syndrome and Familial Hypercalcemia and Hypercalciuria Syndrome and in a less common forms of hypophos-phatemia with hypercalciuria. Of course, environmental fac-tors influence hypercalciuria, but a strong genetic compo- nent has been clearly demonstrated. In fact, in many hyper-lciuric conditions a familial trait has been observed indi-cating the existence of inherited predisposing gene muta-tions. Forty to 45% of patients with idiopathic hypercalciuria exhibit at least one family member with nephrolithiasis. An apparent autosomal inheritance of hypercalciuria has been reported as also a clear autosomal recessive transmission in individual kindreds. Up to date, several genetic defects have been already identified accounting for familial hypercalci-uria, but others are still waiting for being unraveled. Howev-er, the genes responsible for inherited hypercalciuria might also account for sporadic form, as reported in literature, in-cluding isolated or incidental hypercalciuria. Here we will briefly review the more recent evidences accumulated in the international literature in this fascinating field of human a t h o p h y s i o l

Item Type:	Article
Uncontrolled Keywords:	Family studies, gene polymorphisms, association studies
Subjects:	600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale)
Depositing User:	Patrizia Romano
Date Deposited:	19 Mar 2014 15:05
Last Modified:	19 Mar 2014 15:05
URI:	http://eprints.bice.rm.cnr.it/id/eprint/5492

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