Family history may be misleading in the diagnosis of Dent's disease

Urological Research

Volumn 34, Issue 1, 2006, Pages 61-63

  Anglani, F ^a   Bernich, P ^c   Tosetto, E ^a   Cara, M ^b   Lupo, A ^c   Nalesso, F ^a   D'Angelo, A ^a   Gambaro, G ^c  

^a UNIVERSITY OF PADOVA   (Italy)

^b GENERAL HOSPITAL   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

Dent's disease; Hypercalciuria; Nephrocalcinosis; Renal stone; Rickets; X linked nephrolithiasis

Indexed keywords

BICARBONATE; PHOSPHATE; THIAZIDE DIURETIC AGENT; VITAMIN D;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DENT DISEASE; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; FAMILY HISTORY; HUMAN; HYPERCALCIURIA; KIDNEY CALCIFICATION; KIDNEY FAILURE; MALE; NEPHROLITHIASIS; OSTEOMALACIA; PRIORITY JOURNAL; PROTEINURIA; RICKETS; TUBULAR DYSFUNCTION; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE;

ADOLESCENT; ADULT; CHLORIDE CHANNELS; DIAGNOSTIC ERRORS; FAMILY HEALTH; HUMANS; HYPERCALCIURIA; KIDNEY CALCULI; KIDNEY FAILURE, CHRONIC; MALE; PEDIGREE; RECEPTORS, CALCITRIOL;

EID: 32544451423     PISSN: 03005623     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00240-005-0005-5     Document Type: Article

References (13)

1. Godefroid N, Proesmans W (2003) A girl with rickets and nephrocalcinosis. Pediatr Nephrol 18:573
2. Tosetto E, Graziotto R, Artifoni L, Nachtigal J, Cascone C, Conz P, Piva M, Dell'Aquila R, De Paoli Vitali E, Citron L, Nalesso F, Antonello A, Vertolli U, Zagatti R, Lupo A, D'Angelo A, Anglani F, Gambaro G (2005) Dent's disease and prevalence of renal stones in dialysis patients in north-eastern italy. J Human Genet (in press)
3. Wrong OM, Norden AGW, Feest TG (1994) Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q J Med 84:473
4. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379:445
5. Thakker RV (2000) Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int 57:787
6. Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV (1993) Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 91:2351
7. Gunther W, Luchow A, Cluzeaud F, Vandewalle A, Jentsch TJ (1998) ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytically active kidney cells. Proc Natl Acad Sci USA 95:8075
8. Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV (1999) Intra-renal and subcellular distribution of the human chloride channel, ClC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8:247
9. --channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408:369
10. Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, Bushinsky DA, Wrong O, Asplin JR, Langman CB, Norden AG, Thakker RV (2000) Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. Kidney Int 57:232
11. Reinhart SC, Norden AG, Lapsley M, Thakker RV, Pang J, Moses AM, Frymoyer PA, Favus MJ, Hoepner JA, Scheinman SJ (1995) Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol 5:1451
12. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ (2005) Dent Disease with mutations in OCRL1. Am J Hum Genet 76:260
13. Magen D, Adler L, Mandel H, Efrati E, Zelikovic I (2004) Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome. Am J Kidney Dis 43:600