Fenilketonüri: Olgu Sunumu
Abstract
Fenilketonüri (FKU), fenilalanin hidroksilaz enziminin eksikliği ile
görülen otozomal resesif geçişli yenidoğan metabolizma hastalğdr.
Hastalk, geç fark edildiği ya da tedavisi yaplmadğ zaman hastay mental
retardasyona kadar götüren bir seyire sahiptir. Fenilketonürinin kesin
tedavisi yoktur. Hastalara hayat boyu tedavi verilir: bu tedaviler, BH4
tedavisi(eğer yantl ise) ve ya fenilalaninden kstl diyet tedavisidir. Bu
makalede İstanbul Cerrahpaşa Tp Fakültesi Çocuk Hastalklar
Metabolizma Bölümü’ne getirilen yenidoğan taramasnda fenilalanin
yüksekliği tespit edilen 16 günlük kz bebeğe uygulanan tedavi protokolü
anlatlmştr.
Keywords
References
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Details
Primary Language
Turkish
Subjects
-
Journal Section
Research Article
Publication Date
October 10, 2016
Submission Date
July 22, 2016
Acceptance Date
-
Published in Issue
Year 2016 Volume: 2 Number: 2