Dent disease

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Synonyms: Dent syndrome | Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis | Renal Fanconi syndrome with nephrocalcinosis and renal stones | X-linked recessive hypercalciuric hypophosphatemic rickets | X-linked recessive nephrolithiasis

A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria nephrolithiasis/nephrocalcinosis and progressive renal failure among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants and Dent disease type 2 often characterized by the addition of extra renal manifestations in association with OCRL1 variants.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

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Clinical Trials

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