title: A boy with Dent-2 disease.
abstract: 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.
authors: University of Zagreb, Zagreb University Hospital Centre, Department of Pediatrics, Division of Nephrology, Zagreb, Croatia. kvrljicak@yahoo.com
authors: Kristina
authors: K
authors: Vrljicak
authors: Danica
authors: D
authors: Batinić
authors: Danko
authors: D
authors: Milosević
authors: Ljiljana
authors: L
authors: Nizić-Stancin
authors: Michael
authors: M
authors: Ludwig
mesh_terms: D002675:Child, Preschool; D057973:Dent Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male