Overview

Dent's disease


Related Overviews

 

'Dent's disease' can also refer to...

Dent's disease

Dent's disease

Dent’s disease

Dent’s disease (1911–76)

Dent's disease: can we slow its progression?

Dent’s disease: chloride–proton exchange controls proximal tubule endocytosis

Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease

Hydrochlorothiazide-induced tubulointerstitial nephritis in a patient with Dent disease

FP763WHETHER WOMEN ASYMPTOMATIC OR SYMPTOMATIC CARRIERS OF DENT DISEASE?

Mice lacking renal chloride channel, CLC-5, are a model for Dent’s disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis

Dent–Wrong disease and other rare causes of the Fanconi syndrome

MP038RENAL PHENOTYPES OF DENT DISEASE PATIENTS ACCORDING TO THEIR GENOTYPES

Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease

SP749RENAL TUBULAR FUNCTION IN KIDNEY TRANSPLANT PATIENTS: DENT-LIKE DISEASE?

Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

Intra-Renal and Subcellular Distribution of the Human Chloride Channel, CLC-5, Reveals a Pathophysiological Basis for Dent's Disease

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

 

More Like This

Show all results sharing this subject:

  • Medicine and Health

GO

Show Summary Details

Quick Reference

A rare X-linked (see sex-linked) recessive inherited condition usually presenting in childhood or early adult life with polyuria, microscopic haematuria, renal stone disease, or rickets. The majority of patients have a mutation of the gene encoding chloride channel 5 (CLCN5); others have a defect of the OCRL1 gene, normally associated with Lowe’s syndrome, but do not present with the cataracts, mental retardation, and tubular acidosis associated with this condition. In still others the genetic defect has yet to be defined but is not associated with either CLCN5 or OCRL1. Patients with Dent’s disease have evidence of proximal tubular dysfunction. C. E. Dent (1911–76), British physician

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.