Assit ve Karaciğer Yetmezliği ile Başvuran Atriyal Septal Defektli Bir Galaktozemi Vakası

Year 2018, , 43 - 46, 01.04.2018

Mecnun Çetin Elif Yücel Kamuran Karaman Hadi Geylan Aytül Eren

https://doi.org/10.5222/j.child.2018.53325

Abstract

Galaktozemi, galaktoz metabolizmasında rol alan galaktoz- 1-fosfat üridil transferaz, galaktokinaz ve üridin difosfat galaktoz-4-epimeraz enzimlerinden birinin eksikliğinden kaynaklanan doğuştan metabolik bir hastalıktır. En sık görülen enzim eksikliği klasik galaktozemiye neden olan galaktoz-1-fosfat üridil transferaz eksikliğidir. Bu enzim eksikliğinde galaktoz ve metabolitleri karaciğer, beyin, lens, böbrekler, dil, deri fibroblastları gibi vucudun değişik yerlerinde birikir. Klinik bulgular genellikle yaşamın ilk haftasından sonra ortaya çıkar. En sık görülen klinik bul- guları beslenme sorunları, sarılık, kusma, hipotoni ve hepatomegalidir. Ender olarak bazı vakalar erken dönem- de karın şişliği ve batında assit belirtileri ile başvurabilir. Burada yenidoğan döneminde başlayıp hızlı ilerleyen batında assit ile başvuran 29 günlük atrial septal defektli bir galaktozemili vaka sunuldu

Keywords

Assit, atrial septal defekt, galaktozemi, yenidoğan

Case of Galactosemia with Atrial Septal Defect Presenting with Ascites and Liver Failure

Abstract

Galactosemia is a congenital metabolic disease resulting from the deficiency of one of the galactose-1-phosphate uridyl transferase, galactokinase and uridine diphosphate galactose-4-epimerase enzymes involved in galactose metabolism. The most common enzyme deficiency is galactose-1-phosphate uridyl transferase deficiency which causes classical galactosemia. In the absence of this enz- yme, galactose and its metabolites accumulate in various parts of the body such as the liver, brain, lens, kidneys, tongue, and skin fibroblasts. Clinical findings usually emerge after the first week of life. The most common clini- cal findings are nutritional problems, jaundice, vomiting, hypotonia and hepatomegaly. Rarely, some cases may be seen with early abdominal swelling and ascites in the abdomen. In this study, we presented a 29 - day - old new- born with galactosemia and atrial septal defect who was presented with abdominal ascites that started from birth and progressed rapidly

Keywords

Ascite, atrial septal defect, galactosemia, neonatal

References

• Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. (2000 Feb 4). Available from: URL: www. ncbi.nlm.nih. gov/books/NBK1518/
• Antshel KM, Epstein IO, Waisbren SE. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology. 2004;18:658-64.
• https://doi.org/10.1037/0894-4105.18.4.658
• Bosch AM. Classic galactosemia: dietary dilemmas. J Inherit Metab Dis. 2011;34:257-60.
• https://doi.org/10.1007/s10545-010-9157-8
• Altunhan H, Annagür A, Konak M, Ertuğrul S, Yüksekkaya HA, Örs R. Klasik galaktozemili bir yeni- doğanda Candida albicans menenjiti. Dicle Tıp Dergisi, 2012;39:587-90.
• https://doi.org/10.5798/diclemedj.0921.2012.04.0208
• Timmers I, van den Hurk J, Di Salle F, Rubio-Gozalbo ME, Jansma BM. Language production and working memory in classic galactosemia from a cognitive neu- roscience perspective: future research directions. J Inherit Metab Dis. 2011;34:367-76.
• https://doi.org/10.1007/s10545-010-9266-4
• Hughes J, Ryan S, Lambert D, et al. Outcomes of sib- lings with classical galactosemia. J Pediatr. 2009;154:721-6.
• https://doi.org/10.1016/j.jpeds.2008.11.052
• Shield JP, Wadsworth EJ, MacDonald A, et al. Therelationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child. 2000;83:248-50.
• https://doi.org/10.1136/adc.83.3.248
• Tyfield LA. Galactosaemia and allelic variation at the galactose-1-phosphate uridyl transferase gene: a comp- lex relationship between genotype and phenotype. Eur J Pediatr. 2000;159:204-7.
• https://doi.org/10.1007/PL00014404
• Bennett MJ. Galactosemia diagnosis gets an upgrade. Clin Chem. 2010;56:690-2.
• https://doi.org/10.1373/clinchem.2010.145359
• Fridovich-Keil J, Walter. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGrawHill Medical Publishing Division; 2008.p.72.
• Turck D. Soy protein for infant feeding: what do we know? Curr Opin Clin Nutr Metab Care 2007;10:360-5.
• https://doi.org/10.1097/MCO.0b013e3280fa821b
• Atik SU, Gürsoy S, Koçkar T, Önal H, Ada SE. Galaktozemi tanılı vakalarımızın klinik ve genetik değerlendirilmesi. Turk Pediatri Ars. 2016;51:204-9.