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Dent Disease

More information in Books or onNLM PubMed
Definition: X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.     
See Also Bartter Syndrome; Fanconi Syndrome; Gitelman Syndrome; Oculocerebrorenal Syndrome
Other names Disease, Dents; Disease, Dent's; Disease, Dent; Dents Disease; Dent's Disease
 
SubstanceCAS Registry & nameCategoriesSource
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis  0   *Dent Disease.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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