Levent KORKMAZ, Osman BASTUG, Tamer GUNES, Mustafa Ali AKİN, Ghaniya DAAR, Mustafa Erhan ASCİOGLU, Fatih KARDAS, Ahmet OZDEMİR, Selim KURTOGLU, Mehmet Adnan OZTURK, Sabriye KORKUT, Mustafa KENDİRCİ

Evaluation of our newborns with galactosemia

Amaç: Bu çalışmada, galaktozeminin yenidoğan döneminde farklı klinik tablolar ile ortaya çıkabileceğini vurgulayarak hastalığın tanınmasında ve izlenmesinde klinisyenlere yardımcı olmayı amaçladık. Gereç ve Yöntemler: Çalışmamız retrospektif kontrolsüz olarak planlandı. Ocak 1994 ile Ocak 2014 tarihleri arasında galactosemia tanısı konularak takip edilmiş ondokuz hasta çalışmaya alındı. Bu hastaların beş tanesi eski tanısı konmuş hastalardı. İdrarda redüktan madde Benedict testiyle, galactose-1-phosphate uridyltransferase (GALT) ölçümü kinetik, enzimatik kolorimetrik ölçüm metoduyla, GALT mutation analizi Tetra-primer Amplification Refractory Mutation System-Polimeraze Chain Reaction (ARMS-PCR) metodu ile galaktoz ve serbest galaktoz ölçümleri modifiye Diepenbrock kolorimetrik mikroassay yöntemiyle çalışıldı. Bulgular: Hastaların 8 (%42,1) kız 11 (%57,9) erkek idi. Galaktozemiden şüphelenme zamanı 11.5±6.3 gün ve ailede galaktozemi hikayesi 1 (%5,3) hastada vardı. En fazla tesbit edilen bulgular beslenme intoleransı (n=17, %89,5), hipotoni (n=17, %89,5), organomegali (n=15, %78,9) olarak dikkat çekti. En fazla görülen genetik bozukluk olarak GALT enzim eksikliği (n=12, %85,7) ve en fazla görülen mutasyon Q188R mutasyonu (n=8, %66,6) olarak bulundu. Sonuç: Galaktozemi hayatı tehdit eden ancak erken tanı ile tedavi edilebilen bir hastalık olamasının yanında, klinikte nonspesifik bulgular görüldüğünde tanısında kafa karışıklığına neden olabilen metabolik hastalıklardan biridir. Tüm bu klinik ve laboratuar bulgularının yanında, galaktozemi hastalığının bu bulguları taşıyan yenidoğanlarda akla getirilebilmesi de erken tanıyı sağlayabilir

Galaktozemili yenidoğan olgularımızın değerlendirilmesi

Objective: In this study, we aimed to help clinicians in the recognition and follow-up of galactosemia by emphasizing that this disease may manifest with different clinical pictures in the neonatal period Materials and Methods: This retrospective uncontrolled study included 19 patients diagnosed with galactosemia and followed-up between January 1994 and January 2014. Five of them had been previously diagnosed. Reductant agents in urine were evaluated using Benedict test, while galactose-1-phosphate uridyltransferase (GALT) was measured with kinetic, enzymatic, colorimetric measurement method. GALT mutation analysis was performed with the Tetraprimer Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) method. Galactose and free galactose were studied with the modified Diepenbrock colorimetric microassay method. Results: Eight (42.1%) of the patients were female and 11 (57.9%) male. Time of the suspicion for galactosemia was found as 11.5±6.3 days, while one patient (5.3%) had a familial history of galactosemia. The most common findings were nutritional intolerance (n=17, 89.5%), hypotonia (n=17, 89.5%) and organomegaly (n=15, 78.9%). The most commonly seen genetic disorder was GALT enzyme deficiency (n=12, 85.7%) and the most common mutation was the Q188R mutation (n=8, 66.6%). Conclusion: Galactosemia is a life threatening, but treatable disease with early diagnosis as well as being one of the metabolic diseases which cause confusion when clinically nonspecific findings are observed. Besides these clinical and laboratory findings, early diagnosis can be established by keeping in mind that galactosemia may present in infants having these findings

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