Хвороба Дента

Визначення(English summary)

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.