G6PD enzim eksikliği olan hastaların klinik ve laboratuvar bulgularının değerlendirilmesi: Tek merkez deneyimi
Abstract
Amaç: Glukoz 6 fosfat dehidrogenaz (G6PD) enzim eksikliği en sık görülen eritrosit enzim eksikliğidir. G6PD enziminin, varyant tiplerine göre aktivite düzeyi değişkenlik gösterdiği için, klinik tablo bireyler arasında hatta aynı aile bireyleri arasında dahi farklı seyredebilmektedir. Çalışmamızın amacı, G6PD enzim eksikliği olan olguların klinik ve laboratuvar özelliklerinin incelenmesi ve ilk tanı anında tedavi gereksinimlerini (fototerapi, kan transfüzyonu ve kan değişimi) belirlemekti. Yöntem: Ocak 2010–Ocak 2022 yılları arasında hastanemiz pediatrik hematoloji polikliniğinde G6PD eksikliği tanısı alan 56 hastanın laboratuvar parametreleri retrospektif olarak incelendi. Bulgular: 56 hastanın 44’ü (%78.5) erkek, 12’si (%21.5) kız, yaş ortalaması 33.46±40.56 (1-180) aydı(Tablo 1). Olguların en sık başvuru şikayeti sarılık iken (29 hasta, %51.8), 10’unda anemi, 5’inde ateş, 4’ünde uzamış sarılık ve 4’ünde hematüri tespit edildi. İlk başvuruda hastaların 45’inin tedavi ihtiyacının olduğu ve 32’sine eritrosit süspansiyonu ile transfüzyon, 9’una fototerapi, 4’üne fototerapi ve kan değişimi uygulandığı tespit edildi. Bir olguda kernikterus sekeli mevcuttu. Sonuç: Enzim eksikliğinde olguların klinik başvuruları, laboratuvar bulguları ve tedavi ihtiyaçları birbirinden farklıdır. Bu nedenle G6PD eksikliğinden şüphelenilen olgularda eritrosit enzim aktivitesi kantitatif spektrofotometrik ölçümlerle mutlaka değerlendirilmelidir.
References
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Abstract
References
- 1. Youngster I, Arcavi L, Schechmaster R, et al. Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review. Drug Saf. 2010;33(9):713-26.
- 2. Roos D, van Zwieten R, Wijnen JT, et al. Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. Blood. 1999;94(9): 2955-62.
- 3. Beutler E. G6PD deficiency. Blood. 1994; 84(11):3613-36.
- 4. Altay Ç, Gümrük F. Red cell glucose-6- phosphate dehydrogenase deficiency in Turkey. Turk J Hematol. 2008;25(1):1-7.
- 5. Bunn HF, Lux SE. Hemolytic disorders of the red cell membrane and red cell metabolism. In: Bunn HF, Aster JC, eds. Pathophysiology of Blood Disorders. 1st ed. China: Lange; 2011. p.110-21.
- 6. Luzatto L, Paggi V. Glucose 6 phosphat dehydrogenase deficiency. In: Orkin SH, Nathan DG, eds. Nathan and Oski’s Hematology Infancy and Childhood. 7th ed. Philadelphia: Saunders Elsevier; 2009. p.883-907.
- 7. Kılınç Y. The incidence of glucose-6-phosphate dehydrogenase deficiency in cord blood in mid-south part of Turkey. Ç.Ü. Tıp Fak Dergisi. 1982;3:233-6.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Sözlü Bildiriler |
| Authors | |
| Publication Date | June 30, 2022 |
| Submission Date | February 26, 2022 |
| Acceptance Date | March 10, 2022 |
| Published in Issue | Year 2022 Volume: 15 Issue: (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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