Erken Neonatal Dönemde Direkt Hiperbilirübinemi ve Uzun QT Sendromu ile Ortaya Çıkan Klasik Galaktozemi Vakas

Öz

Klasik galaktozemi galaktoz metabolizmasındaki otozo- mal resesif bir kalıtsal bir bozukluğun neden olduğu yaşamı tehdit eden bir metabolik hastalıktır. Klasik galak- tozemili bebeklerde galaktoz-1-fosfat metabolize edile- mez. Galaktozemili bebeklerde yaşamın ilk günlerinde laktoz içeren mama veya anne sütüyle beslenmeyi takiben kusma, karaciğer sorunları ve sarılık gelişebilir. Klasik galaktozemide genellikle direk hiperbilirübinemi ön plandadır. Bununla birlikte hastalık erken dönemde indirek hiperbilirübinemi ile de ortaya çıkabilir. Uzun QT sendromu elektrokardiyogramda uzun QT mesafesi ile karakterize bir myokard repolarizasyon bozukluğudur. Bu sendromda ani bebek ölümü riski yüksektir. Bu makalede erken neonatal dönemde ciddi indirek hiperbilirubinemi ve uzun QT sendromu ile ortaya çıkan klasik galaktozemi- li bir yenidoğan vaka sunuldu

Anahtar Kelimeler

• Hiperbiliübinemi,uzun QT sendromu,galaktozemi

A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period

Öz

Classical galactosemia is a life-threatening metabolic dis- ease caused by an autosomal recessive inherited defect of galactose metabolism. Newborns with classical galac- tosemia are unable to metabolize galactose-1-phosphate. Infants with galactosemia may develop symptoms such as vomiting, liver problems, and jaundice in the first days of life if they are fed with formula that contains lactose or breast milk. In classical galactosemia generally direct hyperbilirubinemia is the prominent feature. However the disease may onset with indirect hyperbilirubinemia at its early stage. The long QT syndrome is a disorder of myocar- dial repolarization characterized by a prolonged QT inter- val on the electrocardiogram. This syndrome is associated with an increased risk of sudden infant death. We report here a case of classical galactosemia presenting with severe indirect hyperbilirubinemia and long QT syndrome during early neonatal period

Anahtar Kelimeler

• Hyperbilirubinemia,long QT syndrome,galactosemia

Kaynakça

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