Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 <i>CLCN5</i> variants, and Dent disease type 2, often characterized by the addition of extra renal manifestations in association with <i>OCRL1</i> variants. Disease data Classification Disease Synonyms Dent syndrome Białkomocz drobnocząsteczkowy z hiperkalciurią i nefrokalcynozą Nerkowy zespół Fanconiego z nefrokalcynozą i kamieniami nerkowymi Recesywna kamica nerkowa sprzężona z chromosomem X Recesywna krzywica hipofosfatemiczna z hiperkalciurią sprzężona z chromosomem X Zespół Denta 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 ORPHA code 1652 OMIM code 310468 ICD10 code N25.8 ICD11 code GB90.42 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl