Çocuk Sağlığı ve Hastalıkları Dergisi 2015 , Vol 58 , Num 1
Congenital glucose-galactose malabsorption: a case report
*Birgin Törer1, Bilin Çetinkaya1, Deniz Hanta2, Oğuz Canan3, Hande Gülcan4
Başkent Üniversitesi Tıp Fakültesi 1Neonatoloji Uzmanı, 3Pediatri Doçenti, 4Pediatri Profesörü, Adana Kadın Doğum ve Çocuk Hastalıkları Hastanesi 2Neonatoloji Uzmanı
*İletişim: b.torer@yahoo.com
Congenital glucose-galactose malabsorption is a rare disorder characterized by life-threatening osmotic diarrhea. The disease is caused by a mutation in the sodium/glucose cotransporter (SGLT1) gene. Infants with congenital glucose-galactose malabsorption suffer from profuse, watery diarrhea that leads to hypernatremic dehydration and metabolic acidosis in early neonatal life. Elimination of glucose and galactose from the diet results in complete resolution of diarrhea. Here, we report a newborn infant who was diagnosed with congenital glucose-galactose malabsorption and successfully treated with specialized formula supplemented with fructose. We want to emphasize that timely diagnosis and dietary management of congenital glucose-galactose malabsorption can prevent fatal complications. Anahtar Kelimeler : yenidoğan, konjenital glukoz-galaktoz malabsorpsiyonu, ishal, dehidratasyon.
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