engleski

A boy with Dent-2 disease

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.

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

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