A Newborn with Congenital Glucose-Galactose Malabsorption and Recurrent Episodes of Sepsis

Yıl 2013, , 85 - 87, 01.09.2013

Serdar Alan , Zarife Kuloğlu Ufuk Çakır Aytaç Yaman Begüm Atasay Aydan Kansu Tanca Saadet Arsan

https://doi.org/10.4274/Jcp.11.21931

Öz

Congenital glucose-galactose malabsorption is a chronic osmotic diarrhea due to defective absorption of glucose and galactose in the intestine. Here, we present a newborn that was admitted to our hospital for neonatal diarrhea and was diagnosed as congenital glucosegalactose malabsorption. He had recurrent sepsis with Candida albicans, Klebsiella pneumoniae and Enterococcus faecalis during follow-up without having any underlying cellular or humoral immune deficiency.Early diagnosis and appropriate treatment of this rare disease can prevent life-threatening complications, and normal growth and development can be achieved. To our knowledge, the present case will be the second glucose-galactose malabsorption case with recurrent infectious due to opportunistic microorganisms after only one similar case in the literature

Anahtar Kelimeler

Newborn, congenital glucose-galactose malabsorption, diarrhea, dehydration, recurrent infectious

Konjenital Glukoz-Galaktoz Malabsorbsiyonu ve Tekrarlayan Sepsis Atakları Olan Yenidoğan Olgusu

Öz

Konjenital glukoz ve galaktoz malabsorbsiyonu absorbe edilemeyen glukoz ve galaktoz nedeniyle ortaya çıkan kronik osmotik bir ishal durumudur. Burada, yenidoğan döneminde ishal nedeniyle başvuran ve konjenital glukoz ve galaktoz malabsorbsiyonu tanısı alan, takibinde tekrarlayan Candida albicans, Klebsiella pneumoniae ve Enterococcus faecalis etkenleri ile sepsis atakları geçiren fakat altta yatan hücresel ve humoral immün yetmezlik tespit edilmeyen bir olgu sunulmaktadır. Nadir görülen konjenital glukoz ve galaktoz malabsorbsiyonunda, erken tanı ve uygun tedavinin yaşamı tehdit eden komplikasyonların önüne geçebileceği, büyüme ve gelişmenin normal olabileceği bilinmektedir. Konjenital glukoz ve galaktoz malabsorbsiyonu tanısı alıp tekrarlayan fırsatçı mikroorganizmalarla enfeksiyon geçiren literatürde bizim olgumuz dışında yalnızca bir olgu daha tanımlanmaktadır

Anahtar Kelimeler

Yenidoğan, kojenital glukoz ve galaktoz malabsorbsiyonu, ishal, dehidratasyon, tekrarlayan enfeksiyonlar

Kaynakça

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