title: Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.
abstract: Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without family history. A possible approach to this problem is to search for CLCN5 mutations in patients who may have a high prevalence of mutations: end-stage renal disease (ESRD) patients with previous calcium, struvite, or radio-opaque (CSR) stones. We looked for CLCN5 mutations in 25 males with ESRD-CSR stones selected from all of the patients (1,901 individuals, of which 1,179 were males) of 15 dialysis units in the Veneto region. One DD patient had a new DD mutation (1070 G > T) in exon 7. The new polymorphism IVS11-67 C > T was detected in intron 11 in one patient and one control. We also found 28 females with ESRD and stone history, and seven more males with ESRD and non-CSR stones. The prevalence of stone formers among dialysis patients in our region was 3.2%, much lower than the prevalence observed in older studies. Struvite stones continue to play a major role in causing stone-associated ESRD .
authors.affiliation: Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
authors.forename: Enrica
authors.initials: E
authors.lastname: Tosetto
authors.affiliation: Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
authors.forename: Romina
authors.initials: R
authors.lastname: Graziotto
authors.affiliation: Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
authors.forename: Lina
authors.initials: L
authors.lastname: Artifoni
authors.affiliation: Dialysis Unit of the General Hospital of Feltre, Feltre, Italy.
authors.forename: Josef
authors.initials: J
authors.lastname: Nachtigal
authors.affiliation: Dialysis Units of the General Hospitals of Castelfranco, Castelfranco and Treviso, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Cascone
authors.affiliation: Dialysis Unit of the General Hospital of Monselice, Monselice, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Conz
authors.affiliation: Dialysis Unit of the General Hospital of Rovigo, Rovigo, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Piva
authors.affiliation: Dialysis Unit of the General Hospital of Vicenza, Vicenza, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Dell'Aquila
authors.affiliation: Dialysis Unit of the General Hospital of Belluno, Belluno, Italy.
authors.forename: Ermanno
authors.initials: E
authors.lastname: De Paoli Vitali
authors.affiliation: Department of Nephrology, University Hospital of Padova, Padova, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Citron
authors.affiliation: Department of Nephrology, University Hospital of Padova, Padova, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Nalesso
authors.affiliation: Department of Nephrology, University Hospital of Padova, Padova, Italy.
authors.forename: Augusto
authors.initials: A
authors.lastname: Antonello
authors.affiliation: Department of Nephrology, University Hospital of Padova, Padova, Italy.
authors.forename: Ugo
authors.initials: U
authors.lastname: Vertolli
authors.affiliation: Department of Nephrology, University Hospital of Padova, Padova, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Zagatti
authors.affiliation: Department of Nephrology, University Hospital of Verona, Verona, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Lupo
authors.affiliation: Department of Nephrology, University Hospital of Padova, Padova, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: D'Angelo
authors.affiliation: Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
authors.forename: Franca
authors.initials: F
authors.lastname: Anglani
authors.affiliation: Department of Nephrology, University Hospital of Verona, Verona, Italy. giovanni.gambaro@univr.it.|Dipartimento di Scienze Biomediche e Chirurgiche, Divisione di Nefrologia, Università di Verona, Ospedale Maggiore, P.le Stefani 1, 37126, Verona, Italy. giovanni.gambaro@univr.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gambaro
mesh_terms: D000328:Adult; D000368:Aged; D018118:Chloride Channels / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D007669:Kidney Calculi / Q000150:complications* / Q000453:epidemiology; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015995:Prevalence
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels