Faculty of Medicine
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Item type:Publication, Long term outcome of a patient with Dent-2 disease(SHMSHM/AAMD, 2017); ; Dent-2 disease a relatively new entity described in 2005 which characterize with low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and progression to chronic kidney disease and in some cases to end stage renal diseases. The molecular basis is mutation in OCRL1 gene which is known to cause oculocerebrorenal syndrome of Lowe. The prognosis of Dent disease is unfavorable, with slow progression to end stage renal failure. There are no clear guidelines about the best therapeutic options for patients with Dent disease. Treatment of hypercalciuria with thiazide diuretics is recommended as well potassium citrate in order to prevent nephrolithiasis and nephrocakcinosis. Our patient fulfilled the clinical, biochemical and genetic criteria for Dent-2 disease. He had been lost for regular follow up for many years without any medical treatment. Interestingly, despite massive proteinuria (including glomerular component) and severe hypercalciuria there was no worsening of the renal function neither ultrasound changes in his kidneys. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria(S. Karger AG, 2018); ; Febrile proteinuria is functional proteinuria and is seen as a transitory phenomenon during acute febrile illness, mainly viral infections. It is a benign phenomenon and clears promptly with resolution of the infection.