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Start Over Descriptor "primary hyperoxaluria" Language turkish
2 results on '"primary hyperoxaluria"'

1. İnfantil dönemde böbrek yetmezliği gelişen primer hiperokzalüri: İki olgu sunumu.

Author

Elmacı, Ahmet Midhat and Baran, Ahmet

Subjects
*KIDNEY failure, *OXALURIA, *GENETIC disorders, *ALPHA 1-antitrypsin deficiency, *URINARY calculi, *GLOMERULAR filtration rate, *GENETICS
Abstract

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, oxalate accumulates leading to systemic oxalosis. We, herein report two cases of primary hyperoxaluria with renal failure in infancy. [ABSTRACT FROM AUTHOR]

Published
2012
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2. Son dönem böbrek yetmezliği gelişen bir primer hiperokzalüri olgusu

Author

AKBALIK, M., BEK, K., KARADENİZ, Ş., ÖZKAYA, O., TAŞDÖVEN, Ç.s., BAYSAL, M.k., and Ondokuz Mayıs Üniversitesi

Subjects
Nephrocalcinosis, Renal failure, urologic and male genital diseases, Primary hyperoxaluria, female genital diseases and pregnancy complications
Abstract

A case of primary hyperoxaluria developing end stage renal failure in infancyPrimary hyperoxaluria is a rare, autosomal recessive inherited disease which is characterised by recurrent urolithiasis, nephrocalcinosis and oxalate deposition throughout the body. We present here 45 days old male infant with early onset nephrocalcinosis and end stage renal disease due to primary hyperoxaluria.Primer hiperokzalüri, otozomal resesif geçiş gösteren, tekrarlayan üriner sistem taşlan, nef-rokalsinozis ve tüm vücutta okzalat birikimi ile karakterize nadir bir hastalıktır. Burada erken dönemde nefrokalsinozis ve son dönem böbrek yetmezliği gelişen primer hiperokzalürili 45 günlük bir erkek bebek sunulmuştur.

Published
2006

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