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Prethodno priopćenje

A Boy with Dent-2 Disease

Kristina Vrljičak
Danica Batinić
Danko Milošević
Ljiljana Nižić-Stančin
Michael Ludwig

Puni tekst: engleski pdf 57 Kb

str. 925-928

preuzimanja: 445



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.

Ključne riječi

Dent-2 disease, OCRL mutation, hypercalciuria, proteinuria

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