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
Kaynakça
- 1. Lee WS, Tay CG, Nazrul N, Paed M, Chai PF. A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption. Med J Malaysia 2009;64:83-5.
- 2. Wright EM, Martin MG, Turk E. Familial glucose galactose malabsorption and hereditary renal glycosuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D ed(s). The metabolic and molecular bases of inherited diseases, 8th edn. McGraw-Hill, New York, 2001:4891-908.
- 3. Passariello A, Terrin G, Baldassarre ME, De Curtis M, Paludetto R, Berni Canani R. Diarrhea in neonatal intensive care unit. World J Gastroenterol 2010;16:2664-8.
- 4. Bülbül A, Okan F, Bülbül L, Nuhoğlu A. Yenidoğan döneminde glukoz galaktoz malabsorbsiyonu: İki olgu sunumu. Şeh Tıp Bülteni 2008;42:13-6.
- 5. Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. Nutrition management of congenital glucose-galactose malabsorption: a case study. J Am Diet Assoc 1997;97:1417-21.
- 6. Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, et al. Missense mutations in SGLT1 cause glucose-galactose malabsorbtion by trafficking defects. Biochim Biophys Acta 1999;297-303.
- 7. Soylu OB, Ecevit C, Altinöz S, Oztürk AA, Temizkan AK, Maeda M, et al. Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. Eur J Pediatr 2008;167:1395-8
- 8. El-Naggar W, Balfe JW, Barbar M, Taha D. Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. Pediatr Nephrol 2005;20:1336-39.
- 9. Zaoutis T, Walsh TJ. Antifungal therapy for neonatal candidiasis. Curr Opin Infect Dis 2007;20:592-7.
- 10. Indrio F, Neu J. The intestinal microbiome of infants and the use of probiotics. Curr Opin Pediatr 2011;23:145-50.
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
- 1. Lee WS, Tay CG, Nazrul N, Paed M, Chai PF. A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption. Med J Malaysia 2009;64:83-5.
- 2. Wright EM, Martin MG, Turk E. Familial glucose galactose malabsorption and hereditary renal glycosuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D ed(s). The metabolic and molecular bases of inherited diseases, 8th edn. McGraw-Hill, New York, 2001:4891-908.
- 3. Passariello A, Terrin G, Baldassarre ME, De Curtis M, Paludetto R, Berni Canani R. Diarrhea in neonatal intensive care unit. World J Gastroenterol 2010;16:2664-8.
- 4. Bülbül A, Okan F, Bülbül L, Nuhoğlu A. Yenidoğan döneminde glukoz galaktoz malabsorbsiyonu: İki olgu sunumu. Şeh Tıp Bülteni 2008;42:13-6.
- 5. Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. Nutrition management of congenital glucose-galactose malabsorption: a case study. J Am Diet Assoc 1997;97:1417-21.
- 6. Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, et al. Missense mutations in SGLT1 cause glucose-galactose malabsorbtion by trafficking defects. Biochim Biophys Acta 1999;297-303.
- 7. Soylu OB, Ecevit C, Altinöz S, Oztürk AA, Temizkan AK, Maeda M, et al. Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1. Eur J Pediatr 2008;167:1395-8
- 8. El-Naggar W, Balfe JW, Barbar M, Taha D. Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. Pediatr Nephrol 2005;20:1336-39.
- 9. Zaoutis T, Walsh TJ. Antifungal therapy for neonatal candidiasis. Curr Opin Infect Dis 2007;20:592-7.
- 10. Indrio F, Neu J. The intestinal microbiome of infants and the use of probiotics. Curr Opin Pediatr 2011;23:145-50.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2013 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 11 Sayı: 2 |