Farklı Klinik Bulgular Gösteren Glukoz-6-Fosfat Dehidrogenaz Enzim Eksikliği Olguları: Semptomsuz Baba ve Hemolitik Anemili Kızı

Öz

Glukoz-6-fosfat dehidrogenaz (G6PD), eritrositlerde pentoz monofosfat yolunda görev alan, aynı zamanda hücreleri oksidatif stresten koruyan bir enzimdir.G6PD eksikliğinin en sık görülen klinik belirtileri yenidoğan sarılığı ve genellikle ilaçlar, enfeksiyonlar ve bazı gıdalar gibi eksojen ajanlar tarafından tetiklenen akut hemolitik anemidir. Bazı G6PD varyantları doğumsal non-sferositik hemolitik anemiye neden olabilirler. X’e bağlı resesif kalıtım göstermektedir. Hastalık erkeklerde ve homozigot kızlarda ortaya çıkar.Yirmi altı aylık kız olgumuz bakla yeme sonrasında göz akında sararma ve huzursuzluk şikayeti ile başvurdu. G6PD enzim eksikliği tanısı konulan hastanın babasında da GGPDH enzim düzeyi düşük saptandı. Ancak, baba defalarca bakla yeme öyküsü olmasına karşın herhangi bir hemolitik tablo gelişmemişti. Bu olgu, G6PD enzim eksikliğinin farklı cinsiyetlerde farklı klinik seyirlerinin olabileceğini vurgulamak amacı ile sunulmuştur.

Anahtar Kelimeler

• Favizm, G6PD eksikliği, Hemolitik anemi, Kız

Glucose-6-Phosphate Dehydrogenase Deficiency Cases with Different Clinical Findings: Daughter with Hemolytic Anemia and Asymptomatic Father

Öz

Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme included in the pentose phosphate pathway with a cellular protective effect against oxidative stress.The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which is usually triggered by an exogenous agent such as drugs, infections and certain nutrients. Some G6PD variants cause chronic hemolysis, leading to congenital non-spherocytic hemolytic anemia. The disorder is inherited by X-linked transmission. Homozygote females and males are the cases at risk for G6PD deficiency.A 26-month-old girl presented with hemolytic anemia after eating broad beans. She was diagnosed with G6PD deficiency and interestingly the G6DP level was also decreased in her father. There was no history of hemolytic anemia in the father despite multiple exposure to broad beans. We aimed to underline the different types of clinical expressions of G6PD deficiency in different genders by presenting this case report

Anahtar Kelimeler

• Favism, G6PD deficiency, Hemolytic anemia, Female

Kaynakça

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