Yenidoğan Sarılığında Glukoz Altıfosfat Dehidrogenaz Enzim Eksikliği

Year 2022, Volume: 16 Issue: 2, 100 - 106, 16.03.2022

Deniz Yaprak , Ali Bozat Erhan Çalışıcı Orhan Gürsel , Belma Saygılı Karagöl

https://doi.org/10.12956/tchd.821868

Abstract

Amaç: Glukoz-6-fosfat dehidrogenaz (G6PD) enzim eksikliği en çok görülen eritrosit enzim defekti olup, anemi ve sarılıkla karşımıza gelen heterojen bir hastalıktır. Çalışma G6PD eksikliğinin yenidoğan sarılığı üzerine etkisini araştırmak üzere planlandı.

Gereç ve Yöntemler: Yenidoğan sarılığı nedeniyle tedavi edilen ve G6PD enzim düzeyine bakılmış 130 bebeğin demografik ve klinik özellikleri ile birlikte laboratuvar parametreleri retrospektif olarak değerlendirildi. Glukoz-6-fosfat dehidrogenaz enzim eksikliği olan olgularla olmayanlar karşılaştırıldı.

Bulgular: Çalışmaya alınan 22 bebekte (%16.9) G6PD eksikliği saptandı. Bu hastalarda ortalama G6PD enzim düzeyi 2.7±1.7 U/g Hb (N: 8-16)’di. Glukoz-6-fosfat dehidrogenaz eksikliği olanlarda ortalama tepe bilirübin düzeyi daha yüksekti (21.6±4.1 mg/dL vs 19.04 ±3.5 mg/dL, p=0.003). Glukoz-6-fosfat dehidrogenaz eksikliği olanlara verilen fototerapi süresi olmayanlara göre daha uzundu ( 3.1±0.7 vs 2.5±0.7 gün, p=0.001). Glukoz-6-fosfat dehidrogenaz enzim eksikliği olan erkek bebeklerde G6PD düzeyi (Erkek: 2.1 U/g Hb vs Kız: 4.04 U/g Hb; p=0.010) ile hemoglobin düzeyi (Erkek: 16.4±1.9 g/dL vs Kız: 20.7±1.3 g/dL; p<0.001) ve hematokrit düzeyi (Erkek: %49.3±4.7 vs Kız: %61.9±3.7; p<0.001) daha düşüktü. Glukoz-6-fosfat dehidrogenaz enzim eksikliği olan olgularda hemoglobin (r=0.62, p=0.013) ve hematokrit (r=0.54, p=0.012) düzeyleri ile serum G6PD düzeyi arasında pozitif yönde bir ilişki saptandı. Erkek bebeklerde fototerapi (Erkek: 3.4±0.6 gün vs Kız: 2.4±0.5 gün; p=0.002) ve sarılık düzelme (Erkek: 8.5±2.9 vs Kız: 6.4±1.2 gün; p= 0.002) süreleri daha uzundu.

Sonuç: Glukoz-6-fosfat dehidrogenaz eksikliği yenidoğanlarda ciddi sarılığa yol açan ve fototerapi süresini uzatan bir durumdur. Ciddi sarılıkla gelen bir bebekte cinsiyet ayrımı gözetmeksizin akılda tutulmalıdır.

Keywords

glukoz altı fosfat dehidrogenaz, hemolitik anemi, indirekt hiperbilüribinemi, yenidoğan

Thanks

Sayın editör 'Yenidoğan Sarılığında Glukoz Altı Fosfat Dehidrogenaz Eksikliği' isimli çalışmamızı derginize değerlendirilmek üzere saygılarımızla görüşlerinize sunmaktayız

Glucose 6 Phosphate Dehydrogenase Deficiency in Neonatal Jaundice

Abstract

Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of erythrocytes and manifested by anemia and jaundice. This study planned to investigate the effect of G6PD deficiency on newborn jaundice in the neonatal period.

Material and Methods: Demographic and clinical characteristics, and laboratory parameters of 130 infants’ who were treated for newborn jaundice and had G6PD enzyme tests further analyzed retrospectively. Cases with G6PD enzyme deficiency were compared to those without.

Results: Glucose-6-phosphate dehydrogenase deficiency was found in 22 (16.9%) infants and their mean G6PD enzyme level was 2.7±1.7 U/g Hb (N: 8-16). Mean peak bilirubin level was higher in patients with G6PD deficiency (21.6±4.1 vs 19.04±3.5 mg/dL, p=0.003). Duration of phototherapy was longer in patients with G6PD deficiency than without (3.1±0.7 vs 2.5±0.7 days, p=0.001). The levels of G6PD (Male 2.1vs Female: 4.04 U/g Hb; p=0.010), hemoglobin (Male: 16.4±1.9 vs Female: 20.7±1.3 g/dL; p<0.001) and hematocrit (Male: 49.3±4.7 vs Female: 61.9±3.7; p<0.001) were lower in the male infants with G6PD enzyme deficiency. There was a positive correlation between hemoglobin (r=0.62, p=0.013) and hematocrit (r=0.54, p=0.012) and serum G6PD levels in the infants with G6PD enzyme deficiency. Duration of phototherapy (Male: 3.4±0.6 vs Female: 2.4±0.5 days; p=0.002) and jaundice recovery (Male: 8.5±2.9 vs Female: 6.4±1.2 days; p=0.002) were longer in the male infants.

Conclusion: Glucose-6-phosphate dehydrogenase deficiency is a condition lead to severe jaundice and prolong the phototherapy duration in the neonatal period. Glucose-6-phosphate dehydrogenase deficiency should be kept in mind in the infants with severe jaundice regardless of gender.

Keywords

Glucose 6 phosphate dehydrogenase, Hemolytic anemia, Indirect hyperbilirubinemia, Newborn

References

• 1. Luzzatto L, Battistuzzi G. Glucose-6-phosphate dehydrogenase. Adv Hum Genet. 1985;14:217-329.
• 2. Vulliamy T, Mason P, Luzzatto L. The molecular basis of glucose-6-phosphate dehydrogenase deficiency. Trends Genet. 1992;8:138-43.
• 3. Shoji H, Koletzko B. Oxidative stress and antioxidant protection in the perinatal period. Curr Opin Clin Nutr Metab Care. 2007;10:324-8.
• 4. Frosali S, Di Simplicio P, Perrone S et al. Glutathione recycling and antioxidant enzyme activities in erythrocytes of term and preterm newborns at birth. Biol Neonate. 2004;85:188-94.
• 5. Kaplan M, Renbaum P, Vreman HJ et al. (TA)n UGT 1A1 promoter polymorphism: a crucial factor in the pathophysiology of jaundice in G-6-PD deficient neonates. Pediatr Res. 2007;61:727-31.
• 6. Cunningham AD, Hwang S, Mochly-Rosen D. Glucose-6-Phosphate dehydrogenase deficiency and the need for a novel treatment to prevent kernicterus. Clin Perinatol. 2016;43(2):341-354.
• 7. Oppenheim A, Jury CL, Rund D et al. G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. Hum Gen. 1993;91(3):293-4.
• 8. Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bull World Health Organ. 1989;67:601–11.
• 9. Practice parameter: Management of hyperbilirubinemia in the healthy term newborn. American Academy of Pediatrics. Provisional Committee for Quality Improvement and Subcommittee on Hyperbilirubinemia. Pediatrics 1994;94:558-65.
• 10. American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 2004;114:297-316.
• 11. Nkhoma ET, Poole C, Vannappagari V et al. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis. Blood Cells Mol Dis. 2009; 42 (3): 267-78.
• 12. Luzzatto L, Nannelli C, Notaro R. Glucose-6-Phosphate Dehydrogenase Deficiency. Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93.
• 13. Atay E, Bozaykut Abdulkadir, Ipek IO. Glucose-6-phosphate dehydrogenase deficiency in neonatal indirect hyperbilirubinemia. J Trop Ped. 2006; 52 (1): 56–8.
• 14. Bozkurt Ö, Yücesoy E, Oğuz B et al. Severe neonatal hyperbiluribinemia in the southeast region of Turkey. Turk J Med Sci. 2020; 50: 103-9.
• 15. Kaplan M, Algur N, Hammerman C. Onset of jaundice in glucose-6-phosphate dehydrogenase-deficient neonates. Pediatrics. 2001; 108 (4): 956-9.
• 16. Kilicdag H, Gokmen Z, Ozkiraz S et al. Is it accurate to separate glucose-6-phosphate dehydrogenase activity in neonatal hyperbilirubinemia as deficient and normal? Pediatr Neonatol. 2014; 55: 202-207.
• 17. Kaplan M, Hammerman C. Glucose-6-phosphate dehydrogenase deficiency and severe neonatal hyperbilirubinemia: a complexity of interactions between genes and environment. Semin Fetal Neonatal Med. 2010;15:148–56.
• 18. Albayrak C, Albayrak D. Red cell glucose 6-phosphate dehydrogenase deficiency in the northern region of Turkey: is G6PD deficiency exclusively a male disease? Ped Hematol Oncol. 2015; 32(2):85-91.
• 19. Algur N, Avraham I, Hammerman C et al. Quantitative neonatal glucose-6-phosphate dehydrogenase screening: distribution, reference values, and classification by phenotype. J Pediatr. 2012;161(2):197-200.
• 20. Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood reviews. 2007; 21 (5): 267-83.
• 21. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008; 371: 64-74. 22. Weng Y-H, Chiu Y-W. Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. J Pediatr Hematol Oncol. 2010;32:11–4.
• 23. Kaplan M, Hammerman C. Glucose-6-phosphate dehydrogenase deficiency: a potential source of severe neonatal hyperbilirubinaemia and kernicterus. Semin Neonatol. 2002; 7 (2): 121-8.
• 24. Watchko JF, Kaplan M, Stark AR, et al. Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States? J Perinatol 2013;33:499–504.