Son Dönem Böbrek Yetmezliği Gelişen Bir Primer Hiperokzalüri Olgusu

Year 2006, Volume: 23 Issue: 2, 65 - 68, 30.12.2009

M. Akbalık K. Bek Ş. Karadeniz O. Özkaya Ç.s. Taşdöven M.k. Baysal

Abstract

A case of primary hyperoxaluria developing end stage renal failure in infancy
Primary 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.

Keywords

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