Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.
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 .
Tosetto
Enrica
E
Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
Graziotto
Romina
R
Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
Artifoni
Lina
L
Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
Nachtigal
Josef
J
Dialysis Unit of the General Hospital of Feltre, Feltre, Italy.
Cascone
Carmelo
C
Dialysis Units of the General Hospitals of Castelfranco, Castelfranco and Treviso, Italy.
Conz
Piero
P
Dialysis Unit of the General Hospital of Monselice, Monselice, Italy.
Piva
Michele
M
Dialysis Unit of the General Hospital of Rovigo, Rovigo, Italy.
Dell'Aquila
Roberto
R
Dialysis Unit of the General Hospital of Vicenza, Vicenza, Italy.
De Paoli Vitali
Ermanno
E
Dialysis Unit of the General Hospital of Belluno, Belluno, Italy.
Citron
Lorenzo
L
Department of Nephrology, University Hospital of Padova, Padova, Italy.
Nalesso
Federico
F
Department of Nephrology, University Hospital of Padova, Padova, Italy.
Antonello
Augusto
A
Department of Nephrology, University Hospital of Padova, Padova, Italy.
Vertolli
Ugo
U
Department of Nephrology, University Hospital of Padova, Padova, Italy.
Zagatti
Riccardo
R
Department of Nephrology, University Hospital of Padova, Padova, Italy.
Lupo
Antonio
A
Department of Nephrology, University Hospital of Verona, Verona, Italy.
D'Angelo
Angela
A
Department of Nephrology, University Hospital of Padova, Padova, Italy.
Anglani
Franca
F
Laboratory of Molecular Biology, Department of Medical and Surgical Sciences, Division of Nephrology, University of Padova, Padova, Italy.
Gambaro
Giovanni
G
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.
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
C097503:CLC-5 chloride channel; D018118:Chloride Channels