Ferda ÖZBAY HOŞNUT, Ayşegül ZENCİROĞLU, Furkan DONBALOĞLU, Seda AYDOĞAN, Dilek DİLLİ

Ailevi Glukoz Galaktoz Malabsorsiyonu: Bir Yenidoğan Olgu Sunumu

Konjenital glukoz galaktoz malabsorbsiyonu GGM yenidoğan döneminde başlayan kronik ishal ile karakterize nadir bir intestinal emilim bozukluğudur. Glukoz ve galaktozun bağırsaktan absorbe edilememesi ozmotik ishale neden olmaktadır. Bu yazıda, postnatal altıncı gününde anne sütü ile beslenirken ishal tablosu gelişen, ailede kronik ishal öyküsü olan bir yenidoğan olgusu sunuldu. Laktozsuz ve tam hidrolize mamalara yanıt vermeyen, sadece galaktozsuz mama Galactomin-19® ile beslenme sonrası ishali düzelen, ailede de benzer öykü olması ile klinik olarak ailevi GGM tanısı konulan hasta literatür bilgileri ışığında tartışıldı.

Anahtar Kelimeler:

Ailesel glukoz galaktoz malabsorbsiyonu, kronik ishal, yenidoğan

Familial Glucose Galactose Malabsorption: Report of A Newborn Case

Congenital glucose galactose malabsorption GGM is a rare intestinal reabsorption disorder which is characterized by neonatal onset chronic diarrhea. Osmotic diarrhea occurs due to defective absorption of glucose and galactose in the intestine. Here, we present a case of newborn with diarrhea developed while breast-feeding on the 6th day of life and had a family history of chronic diarrhea. The patient who was diagnosed with familial GGM as he did not respond to lactose-free and extensively hydrolyzed formulas but only Galactomin-19® and had a family history of GGM was discussed under the highlight of the literature.

Keywords:

Familial glucose galactose malabsorption, chronic diarrhea, newborn,

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