Naslov
A boy with Dent-2 disease

Autori
Vrljičak, Kristina ; Batinić, Danica ; Milošević, Danko ; Nizić-Stancin, Ljiljana ; Ludwig, Michael

Izvornik
Collegium antropologicum (0350-6134) 35 (2011), 3; 925-928

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prethodno priopćenje, znanstveni

Ključne riječi
Dent-2- disease; OCRL mutation; hypercalciuria; proteinuria

Sažetak
Dent-2 disease is an X-linked renal tubulopathy associated with mutations in OCRL gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis/nephrocalcinosis and progressive renal failure. Patients may have some extra-renal symptoms of Lowe syndrome, such as peripheral cataracts, mental impairment, stunted growth or elevation of creatine kinase/lactate dehydrogenase. Our patient was suspected to suffer from Dent disease at 8 months of age because of proteinuria and hypercalciuria. He had no prominent extra-renal symptoms. OCRL mutation in exon 1 (c.217_218 del TT p.L73F, fs X1) was found. He was treated with amiloride+hydroclorthiazide and citrate with good results in reducing calciuria. His renal ultrasound, ophthalmologic and cardiologic examinations, mental development and other laboratory findings are normal till date.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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