Dent disease

Orpha code: 1652OMIM code: 310468

Definicja

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
Klasyfikacja

Disease

Synonimy
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
Kod ORPHA
1652
Kod OMIM
310468
Kod ICD10
N25.8
Kod ICD11
GB90.42

No additional description.

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