Dent Disease 1

Common Name(s)

Dent Disease 1

The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis ({310468}), X-linked recessive hypophosphatemic rickets ({300554}), and low molecular weight proteinuria ({308990}). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low-molecular-weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' ({12:Scheinman, 1998}; {6:Gambaro et al., 2004}). {13:Scheinman et al. (1999)} provided a comprehensive review of genetic disorders of renal electrolyte transport. Genetic Heterogeneity of Dent Disease See also Dent disease-2 ({300555}), which is caused by mutation in the OCRL gene ({300535}) on chromosome Xq26.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dent Disease 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 31 Dec 2013

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Dent Disease Mutation Genotyping
 

Status: Recruiting

Condition Summary: Dent Disease

 

Last Updated: 17 Oct 2013

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Rare Kidney Stone Consortium Patient Registry
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency

 

Last Updated: 19 Dec 2013

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