Selim GÖKÇE, Özlem Durmaz SÜOĞLU, Ayşen AYDOĞAN, Coşkun ÇELTİK, Günay SANER, Semra SÖKÜCÜ

Glukoz-galaktoz malabsorpsiyonu: Vaka sunumu

Glukoz-galaktoz malabsorpsiyonu yenidoğan döneminde başlayan, glukoz ve/veya galaktoz içeren standart karbonhidratlarla beslenme sonrası ağır, sulu asidik ishal ile karakterizedir. Geç tanı ve tedavi ölüme yol açabilir. Bu yazıda sunulan 3 aylık vaka yenidoğan döneminde sepsis, hiperreninemik hiperaldosteronizm, hipernatremik dehidratasyon tanısı almış ve kronik ishal nedeniyle sevkedilmişti. Tek başına anne sütü ya da laktozsuz formüla ile ishalleri devam eden hastanın asidik ve sulu dışkılaması vardı. Oral alımı kesildiğinde ishali durdu. Laktoz ve glukoz-galaktoz tolerans testleri bozuk olan hastada glukoz-galaktoz malabsorpsiyonu düşünüldü. Fruktoz bazlı formüla başlanan hastanın ishali geriledi ve yeterli tartı alımı gözlendi. Glukoz-galaktoz malabsorpsiyonu olan bu vaka, ender görülmesi ve özellikle yaşamın ilk günlerinde sepsis, metabolik ve endokrinolojik hastalıklarla karışabileceğinin vurgulanması nedeniyle sunuldu

Anahtar Kelimeler:

Erkek, Hiperaldosteronizm, Glukoz, Su kaybı, İshal, bebekte, Emilim bozukluğu sendromları, Süt çocuğu, Galaktoz

Glucose-galactose malabsorption: Case report

Patients with glucose-galactose malabsorption have neonatal onset of severe, watery and acidic diarrhea while on glucose or galactose-containing diets, It is a life-threatining condition if not diagnosed and treated early. We report a 3 month-old boy with glucose-galactose malabsorption previously diagnosed as sepsis, hyperreninemic hyperaldosteronism and hypernatremic dehydration. He had acidic and watery diarrhea while on breast milk or lactose-free formula. Diarrhea stopped on fasting. Lactose and glucose-galactose loading tests were impaired. The patient was considered to have glucose-galactose malabsorption and fructose-based formula was started. Diarrhea stopped and patient was started to gain weight. The case was presented to emphasize that glucose-galactose malabsorption, which is a rare disorder of carbohydrate metabolism, may be misdiagnosed as sepsis, metabolic disease or endocrinologic disorder especially in the neonatal period

Keywords:

Male, Hyperaldosteronism, Glucose, Dehydration, Diarrhea, Infantile, Malabsorption Syndromes, Infant, Galactose,

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