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Literature DB >> 16416111

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

F Anglani¹, P Bernich, E Tosetto, M Cara, A Lupo, F Nalesso, A D'Angelo, G Gambaro.

Abstract

The rare Dent's disease manifests with medullary nephrocalcinosis, nephrolithiasis, hypercalciuria, low molecular weight proteinuria and other tubular dysfunctions, rickets or osteomalacia, and renal failure, in various combinations. It is a recessive X-linked condition. Clinicians consider family history a fundamental pointer to its diagnosis, but this is not invariably the case as clearly pointed out by the two reported cases.

Entities: Disease

Mesh：

Substances：

Year: 2006 PMID： 16416111 DOI： 10.1007/s00240-005-0005-5

Source DB: PubMed Journal: Urol Res ISSN： 0300-5623

13 in total

1. Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.

Authors: S J Scheinman; J P Cox; S E Lloyd; S H Pearce; P V Salenger; R R Hoopes; D A Bushinsky; O Wrong; J R Asplin; C B Langman; A G Norden; R V Thakker
Journal: Kidney Int Date: 2000-01 Impact factor: 10.612

2. Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

Authors: Enrica Tosetto; Romina Graziotto; Lina Artifoni; Josef Nachtigal; Carmelo Cascone; Piero Conz; Michele Piva; Roberto Dell'Aquila; Ermanno De Paoli Vitali; Lorenzo Citron; Federico Nalesso; Augusto Antonello; Ugo Vertolli; Riccardo Zagatti; Antonio Lupo; Angela D'Angelo; Franca Anglani; Giovanni Gambaro
Journal: J Hum Genet Date: 2005-10-25 Impact factor: 3.172

3. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.

Authors: O Devuyst; P T Christie; P J Courtoy; R Beauwens; R V Thakker
Journal: Hum Mol Genet Date: 1999-02 Impact factor: 6.150

4. 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.

Authors: O M Wrong; A G Norden; T G Feest
Journal: QJM Date: 1994-08

Review 5. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.

Authors: R V Thakker
Journal: Kidney Int Date: 2000-03 Impact factor: 10.612

6. Dent Disease with mutations in OCRL1.

Authors: Richard R Hoopes; Antony E Shrimpton; Stephen J Knohl; Paul Hueber; Bernd Hoppe; Janos Matyus; Ari Simckes; Velibor Tasic; Burkhard Toenshoff; Sharon F Suchy; Robert L Nussbaum; Steven J Scheinman
Journal: Am J Hum Genet Date: 2004-12-30 Impact factor: 11.025

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

1. Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.

2. Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

3. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.

4. 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.

Review 5. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.

6. Dent Disease with mutations in OCRL1.

7. Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.

8. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

9. A common molecular basis for three inherited kidney stone diseases.

10. Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.

1. Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.

Review 2. Proteinuria in Dent disease: a review of the literature.