Open AccessDentova bolezen
Author(s) -
Rina Rus,
Kristina Vogrin
Publication year - 2017
Publication title -
zdravniški vestnik
Language(s) - English
Resource type - Journals
eISSN - 1581-0224
pISSN - 1318-0347
DOI - 10.6016/zdravvestn.2467
Subject(s) - hypercalciuria , nephrocalcinosis , medicine , proteinuria , hypotonia , nephrotic syndrome , cystinuria , disease , kidney disease , pediatrics , endocrinology , gastroenterology , kidney , enzyme , biochemistry , cystine , chemistry , cysteine , calcium
Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Signs and symptoms of this condition appear in early childhood and worsen over time. There are two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms (type 1 and type 2). Dent disease 2 is characterized by the features described above and also associated with extrarenal abnormalities (they include mild intellectual disability, hypotonia, and cataract). Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.We represent a case of a 3-year old boy with significant proteinuria in the nephrotic range and hypercalciuria. We confirmed Dent disease type 1 by genetic analysis.