Deniz YAPRAK, Ali BOZAT, Erhan ÇALIŞICI, Orhan GÜRSEL, Belma SAYGILI KARAGÖL

Yenidoğan Sarılığında Glukoz Altıfosfat Dehidrogenaz Enzim Eksikliği

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.

Anahtar Kelimeler:

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

Glucose 6 Phosphate Dehydrogenase Deficiency in Neonatal Jaundice

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,

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