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Familial Glucose Galactose Malabsorption: Report of A Newborn Case

Yıl 2019, Cilt: 16 Sayı: 2, 113 - 115, 01.04.2019

Öz

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.

Kaynakça

  • Martin MG, Wright EM. “Congenital intestinal transport defets.”In:Walker WA, Goulet O, Kliegman RM, Sherman PM, Shneider BL, Sanderson IR, eds. Pediatric Gastrointestinal disease, 4th edn. Decker, Lewiston, NY (2004): 898-921.
  • Lee WS, Tay CG, Nazrul N, Paed M, Chai PF “A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption.” Med. J. Malay- sia 2009, 64.1: 83.
  • Terrin G, Tomaiuolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB. “Congenital diarrheal disorders: an updated diag- nostic approach.” International journal of molecular sciences 2012, 13.4: 4168-4185.
  • Raithel M, Weidenhiller M, Hagel AF, Hetterich U, Neurath MF, Konturek PC. “The malabsorption of commonly occurring mono and disacchari- des.” Dtsch Arztebl Int 2013, 110.46: 775.
  • Wright EM, Martin MG, Turk E. “Familial glucose-galactose malabsorption and hereditary renal glycosuria.” In: Scriver CR, Beaudet AL, Sly WS, Val- le D, Childs B, Kinzler KW, Vogelstein B,eds.Metabolic Basis of Inherited Disease 3th edn.(2001): 4891-4908.
  • Däbritz J, Mühlbauer M, Domagk D, Voos N, Henneböhl G, Siemer ML, Foell D. Significance of hydrogen breath tests in children with suspected carbohydrate malabsorption. BMC pediatrics 2014, 14(1), 1.
  • Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. “Nutrition Management of Congenital Glucose-Galactose Malabsorption: A Case Study.Journal of the American Dietetic Association, 1997, 97.12: 1417-1421.
  • Alan S, Kuloğlu Z, Çakır U, Yaman A, Atasay B, Tanca AK, Arsan S. Kon- jenital Glukoz-Galaktoz Malabsorbsiyonu ve Tekrarlayan Sepsis Atakları Olan Yenidoğan Olgusu. Journal of Current Pediatrics,2013, 11(2).
  • Atay FY, Derme T, Uras N, Ceylaner G, Ceylaner S, Sari FN, Oguz SS. Congenital Glucose–Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene. Digestive Diseases and Sciences,2016, 1-2.
  • Kianifar HR, Talebi S, Tavakkol-Afshari J, Esmaili M, Davachi B, Brook A. D28G mutation in congenital glucose–galactose malabsorption. Archives of Iranian medicine,2007, 10(4), 514-518.
  • Al-Lawati T, Vargees T. Glucose galactose malabsorption complicated with rickets and nephrogenic diabetes insipidus. Oman medical jour- nal,2008, 23(3), 197.
  • Indrio F, Neu J. The intestinal microbiome of infants and the use of probi- otics. Current opinion in pediatrics, 2011,23(2), 145.

Ailevi Glukoz Galaktoz Malabsorsiyonu: Bir Yenidoğan Olgu Sunumu

Yıl 2019, Cilt: 16 Sayı: 2, 113 - 115, 01.04.2019

Öz

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.

Kaynakça

  • Martin MG, Wright EM. “Congenital intestinal transport defets.”In:Walker WA, Goulet O, Kliegman RM, Sherman PM, Shneider BL, Sanderson IR, eds. Pediatric Gastrointestinal disease, 4th edn. Decker, Lewiston, NY (2004): 898-921.
  • Lee WS, Tay CG, Nazrul N, Paed M, Chai PF “A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption.” Med. J. Malay- sia 2009, 64.1: 83.
  • Terrin G, Tomaiuolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB. “Congenital diarrheal disorders: an updated diag- nostic approach.” International journal of molecular sciences 2012, 13.4: 4168-4185.
  • Raithel M, Weidenhiller M, Hagel AF, Hetterich U, Neurath MF, Konturek PC. “The malabsorption of commonly occurring mono and disacchari- des.” Dtsch Arztebl Int 2013, 110.46: 775.
  • Wright EM, Martin MG, Turk E. “Familial glucose-galactose malabsorption and hereditary renal glycosuria.” In: Scriver CR, Beaudet AL, Sly WS, Val- le D, Childs B, Kinzler KW, Vogelstein B,eds.Metabolic Basis of Inherited Disease 3th edn.(2001): 4891-4908.
  • Däbritz J, Mühlbauer M, Domagk D, Voos N, Henneböhl G, Siemer ML, Foell D. Significance of hydrogen breath tests in children with suspected carbohydrate malabsorption. BMC pediatrics 2014, 14(1), 1.
  • Abad-Sinden A, Borowitz S, Meyers R, Sutphen J. “Nutrition Management of Congenital Glucose-Galactose Malabsorption: A Case Study.Journal of the American Dietetic Association, 1997, 97.12: 1417-1421.
  • Alan S, Kuloğlu Z, Çakır U, Yaman A, Atasay B, Tanca AK, Arsan S. Kon- jenital Glukoz-Galaktoz Malabsorbsiyonu ve Tekrarlayan Sepsis Atakları Olan Yenidoğan Olgusu. Journal of Current Pediatrics,2013, 11(2).
  • Atay FY, Derme T, Uras N, Ceylaner G, Ceylaner S, Sari FN, Oguz SS. Congenital Glucose–Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene. Digestive Diseases and Sciences,2016, 1-2.
  • Kianifar HR, Talebi S, Tavakkol-Afshari J, Esmaili M, Davachi B, Brook A. D28G mutation in congenital glucose–galactose malabsorption. Archives of Iranian medicine,2007, 10(4), 514-518.
  • Al-Lawati T, Vargees T. Glucose galactose malabsorption complicated with rickets and nephrogenic diabetes insipidus. Oman medical jour- nal,2008, 23(3), 197.
  • Indrio F, Neu J. The intestinal microbiome of infants and the use of probi- otics. Current opinion in pediatrics, 2011,23(2), 145.
Toplam 12 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Case Report
Yazarlar

Seda Aydoğan Bu kişi benim

Dilek Dilli Bu kişi benim

Ferda Özbay Hoşnut Bu kişi benim

Furkan Donbaloğlu Bu kişi benim

Ayşegül Zenciroğlu Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2019
Yayımlandığı Sayı Yıl 2019 Cilt: 16 Sayı: 2

Kaynak Göster

Vancouver Aydoğan S, Dilli D, Özbay Hoşnut F, Donbaloğlu F, Zenciroğlu A. Ailevi Glukoz Galaktoz Malabsorsiyonu: Bir Yenidoğan Olgu Sunumu. JGON. 2019;16(2):113-5.