BibTex RIS Kaynak Göster

Erken Neonatal Dönemde Direkt Hiperbilirübinemi ve Uzun QT Sendromu ile Ortaya Çıkan Klasik Galaktozemi Vakas

Yıl 2016, Cilt: 16 Sayı: 1, 36 - 38, 01.02.2016

Nilgün Karadağ Ayşegül Zenciroğlu Dilek Dilli Fatma Tuba Eminoğlu Nilay Hakan Özben Ceylan Nurullah Okumuş

https://doi.org/10.5222/j.child.2016.036

Öz

Klasik galaktozemi galaktoz metabolizmasındaki otozo- mal resesif bir kalıtsal bir bozukluğun neden olduğu yaşamı tehdit eden bir metabolik hastalıktır. Klasik galak- tozemili bebeklerde galaktoz-1-fosfat metabolize edile- mez. Galaktozemili bebeklerde yaşamın ilk günlerinde laktoz içeren mama veya anne sütüyle beslenmeyi takiben kusma, karaciğer sorunları ve sarılık gelişebilir. Klasik galaktozemide genellikle direk hiperbilirübinemi ön plandadır. Bununla birlikte hastalık erken dönemde indirek hiperbilirübinemi ile de ortaya çıkabilir. Uzun QT sendromu elektrokardiyogramda uzun QT mesafesi ile karakterize bir myokard repolarizasyon bozukluğudur. Bu sendromda ani bebek ölümü riski yüksektir. Bu makalede erken neonatal dönemde ciddi indirek hiperbilirubinemi ve uzun QT sendromu ile ortaya çıkan klasik galaktozemi- li bir yenidoğan vaka sunuldu

Anahtar Kelimeler

Hiperbiliübinemi uzun QT sendromu galaktozemi

Kaynakça

  • Mason HH, Turner ME. Chronic galactosemia: report of case with studies on carbohydrates. Am J Dis Child 1935;50:359-74. https://doi.org/10.1001/archpedi.1935.01970080053005
  • Bosch AM. Classical galactosemia revisited. J Inherit Metab Dis 2006;29:516-25. https://doi.org/10.1007/s10545-006-0382-0
  • Emeriaud G, Douchin S, Jouk PS, Andrini P, Wroblewski I, Marey C, et al. Congenital long QT syndrome in newborns. Arch Pediatr 2002;9:805-9. https://doi.org/10.1016/S0929-693X(01)00992-7
  • Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr 2003;162:50-3. https://doi.org/10.1007/s00431-003-1352-2
  • Woo HC, Phornphutkul C, Laptook AR. Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. J Perinatol 2010;30:295-7. https://doi.org/10.1038/jp.2009.136
  • Kaplan M, Wong RJ, Sibley E, Stevenson DK. Neonatal jaundice and liver disease. In: Neonatal- Perinatal Medicine: Diseases of the Fetus and Infant, 9th ed, Martin RJ, Fanaroff AA, Walsh MC (Eds), Elsevier Mosby, St. Louis 2011;Vol 2, p.1443. https://doi.org/10.1016/b978-0-323-06545-0.00057-1
  • coskun t, erkul e, seyrantepe V, ozgüç m, tokatli a, ozalp I. Mutational analysis of Turkish galactosae- mia patients. J Inherit Metab Dis 1995;18:368-9. https://doi.org/10.1007/BF00710438

A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period

Yıl 2016, Cilt: 16 Sayı: 1, 36 - 38, 01.02.2016

Nilgün Karadağ Ayşegül Zenciroğlu Dilek Dilli Fatma Tuba Eminoğlu Nilay Hakan Özben Ceylan Nurullah Okumuş

https://doi.org/10.5222/j.child.2016.036

Öz

Classical galactosemia is a life-threatening metabolic dis- ease caused by an autosomal recessive inherited defect of galactose metabolism. Newborns with classical galac- tosemia are unable to metabolize galactose-1-phosphate. Infants with galactosemia may develop symptoms such as vomiting, liver problems, and jaundice in the first days of life if they are fed with formula that contains lactose or breast milk. In classical galactosemia generally direct hyperbilirubinemia is the prominent feature. However the disease may onset with indirect hyperbilirubinemia at its early stage. The long QT syndrome is a disorder of myocar- dial repolarization characterized by a prolonged QT inter- val on the electrocardiogram. This syndrome is associated with an increased risk of sudden infant death. We report here a case of classical galactosemia presenting with severe indirect hyperbilirubinemia and long QT syndrome during early neonatal period

Anahtar Kelimeler

Hyperbilirubinemia long QT syndrome galactosemia

Kaynakça

  • Mason HH, Turner ME. Chronic galactosemia: report of case with studies on carbohydrates. Am J Dis Child 1935;50:359-74. https://doi.org/10.1001/archpedi.1935.01970080053005
  • Bosch AM. Classical galactosemia revisited. J Inherit Metab Dis 2006;29:516-25. https://doi.org/10.1007/s10545-006-0382-0
  • Emeriaud G, Douchin S, Jouk PS, Andrini P, Wroblewski I, Marey C, et al. Congenital long QT syndrome in newborns. Arch Pediatr 2002;9:805-9. https://doi.org/10.1016/S0929-693X(01)00992-7
  • Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr 2003;162:50-3. https://doi.org/10.1007/s00431-003-1352-2
  • Woo HC, Phornphutkul C, Laptook AR. Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. J Perinatol 2010;30:295-7. https://doi.org/10.1038/jp.2009.136
  • Kaplan M, Wong RJ, Sibley E, Stevenson DK. Neonatal jaundice and liver disease. In: Neonatal- Perinatal Medicine: Diseases of the Fetus and Infant, 9th ed, Martin RJ, Fanaroff AA, Walsh MC (Eds), Elsevier Mosby, St. Louis 2011;Vol 2, p.1443. https://doi.org/10.1016/b978-0-323-06545-0.00057-1
  • coskun t, erkul e, seyrantepe V, ozgüç m, tokatli a, ozalp I. Mutational analysis of Turkish galactosae- mia patients. J Inherit Metab Dis 1995;18:368-9. https://doi.org/10.1007/BF00710438
Toplam 7 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Araştırma Makaleleri
Yazarlar

Nilgün Karadağ Bu kişi benim

Ayşegül Zenciroğlu Bu kişi benim

Dilek Dilli Bu kişi benim

Fatma Tuba Eminoğlu Bu kişi benim

Nilay Hakan Bu kişi benim

Özben Ceylan Bu kişi benim

Nurullah Okumuş Bu kişi benim

Yayımlanma Tarihi 1 Şubat 2016
Yayımlandığı Sayı Yıl 2016 Cilt: 16 Sayı: 1

Kaynak Göster

APA Karadağ, N., Zenciroğlu, A., Dilli, D., Eminoğlu, F. T., vd. (2016). A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period. Journal of Child, 16(1), 36-38. https://doi.org/10.5222/j.child.2016.036
AMA Karadağ N, Zenciroğlu A, Dilli D, Eminoğlu FT, Hakan N, Ceylan Ö, Okumuş N. A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period. Journal of Child. Şubat 2016;16(1):36-38. doi:10.5222/j.child.2016.036
Chicago Karadağ, Nilgün, Ayşegül Zenciroğlu, Dilek Dilli, Fatma Tuba Eminoğlu, Nilay Hakan, Özben Ceylan, ve Nurullah Okumuş. “A Case of Classical Galactosemia Presenting With Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period”. Journal of Child 16, sy. 1 (Şubat 2016): 36-38. https://doi.org/10.5222/j.child.2016.036.
EndNote Karadağ N, Zenciroğlu A, Dilli D, Eminoğlu FT, Hakan N, Ceylan Ö, Okumuş N (01 Şubat 2016) A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period. Journal of Child 16 1 36–38.
IEEE N. Karadağ, “A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period”, Journal of Child, c. 16, sy. 1, ss. 36–38, 2016, doi: 10.5222/j.child.2016.036.
ISNAD Karadağ, Nilgün vd. “A Case of Classical Galactosemia Presenting With Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period”. Journal of Child 16/1 (Şubat 2016), 36-38. https://doi.org/10.5222/j.child.2016.036.
JAMA Karadağ N, Zenciroğlu A, Dilli D, Eminoğlu FT, Hakan N, Ceylan Ö, Okumuş N. A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period. Journal of Child. 2016;16:36–38.
MLA Karadağ, Nilgün vd. “A Case of Classical Galactosemia Presenting With Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period”. Journal of Child, c. 16, sy. 1, 2016, ss. 36-38, doi:10.5222/j.child.2016.036.
Vancouver Karadağ N, Zenciroğlu A, Dilli D, Eminoğlu FT, Hakan N, Ceylan Ö, Okumuş N. A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period. Journal of Child. 2016;16(1):36-8.