İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu

Primer hiperokzalüri (PH), okzalatın aşırı sistemik üretimine yol açan, nadir görülen gliokzalat metabolizma bozukluğudur. Okzalatın aşırı üretimi ve idrarla atılımının artması, tekrarlayan üriner sistem taşları ve nefrokalsinozis ile sonuçlanır. Vücutta okzalat birikimi sistemik okzalozise neden olur ve glomeruler filtrasyon hızı ilerleyici böbrek tutulumuna bağlı olarak azalır. İnfantil dönemde PH tanısı alan ve böbrek yetmezliği gelişen iki vaka sunulmuştur.

Primary hyperoxaluria with development of renal failure during infancy: Report of two cases

Primary hyperoxaluria is a rare genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxa- late accumulates leading to systemic oxalosis. We, herein report two cases of primary hyperoxaluria with renal failure in infancy.

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