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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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