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GLUKOZ-6-FOSFAT DEHİDROGENAZ ENZİM EKSİKLİĞİ OLAN ÇOCUKLARDA G6PD S218F AKDENİZ MUTASYONU SIKLIĞI

Year 2014, Volume: 15 Issue: 1, 1 - 8, 01.04.2014

Abstract

AMAÇ: Glukoz-6-fosfat dehidrogenaz (G6PD) enzim eksikliği olan çocuklarda G6PD S218F Akdeniz mutasyonunun görülme sıklığını belirlemek.GEREÇ ve YÖNTEM: Adnan Menderes Üniversitesi Tıp Fakültesi Çocuk Hematolojisi ve Neonatoloji Bilim Dalları'nda 2004-2012 yılları arasında G6PD enzim eksikliği tanısı alan, enzim düzeyi düşük saptanan (<6 U/grHb) ve mutasyon çalışması yapılmış olan hastalar dahil edildi. Enzim düzeyi kantitatif spektrofotometri yöntemi ile, mutasyon analizi lightcycler 1.5 real-time PCR cihazında melting-curve analizi ile yapıldı. BULGULAR: G6PD enzim eksikliği anemisi tanısı konulan 60 hastanın, 29'u yenidoğan sarılığı (YDS), 31'i favizm nedeniyle başvurdu. Hastaların 44'ü erkek (%73,3), 16'sı (%26,7) kız; favizm tanısı konulan olguların 27'si (%87) erkek, 4'ü (%13) kız; yenidoğan sarılığı olgularının 17'si (%58) erkek, 12'si (%41,3) kız idi. Favizm tanısı konulan 31 olgunun 30'unda halsizlik, 28'inde sarılık ve 22'sinde kusma yakınması mevcuttu. Bakla yedikten sonra semptomların görülmesi arasında geçen süre ortalama 6 saat (dağılım, 2-24 saat) idi. Yenidoğan döneminde sarılık ile başvuran olguların üçünde patolojik sarılık, 16'sında uzamış sarılık öyküsü mevcuttu. Dört bebeğe hiperbilirubinemi nedeniyle kan değişimi yapıldı. G6PD eksikliği saptanan 60 olgunun 15'inde (%25) homozigot, 6'sında (%10) heterozigot olmak üzere 21 hastada (%35) G6PD S218F Akdeniz mutasyonu tespit edildi. Mutasyon saptanan olguların 13'ünde (%42) favizm, 8'inde (%27) yenidoğan sarılığı mevcuttu. Homozigot mutasyon saptanan 15 hastanın 1'si (%6,6) kız, 14'ü (%93) erkekti (p<0.001). G6PD S218F heterozigot mutasyonu saptanan 6 hastanın hepsi kızdı. Homozigot mutasyon saptanan olguların 4'ü YDS, 11'i bakla yeme sonrası sarılık; heterozigot mutasyon saptanan olguların ise 4'ü YDS, ikisi bakla yeme sonrası sarılık yakınmasıyla başvurdu.G6PD S218F mutasyon görülme sıklığı açısından favizm ve yenidoğan sarılığı arasında istatistiksel olarak anlamlı fark saptanmadı (P=0.130). SONUÇ: Çalışmamızda G6PD S218F Akdeniz mutasyonu sıklığını %35 olarak saptadık. Bu oran ülkemizdeki diğer çalışmalarda belirtilen oranlardan düşüktü. Bu durum bölgesel farklılıklara bağlı olabileceği gibi çalışmalardaki olgu sayılarının ve olgu özelliklerinin farklılığından da kaynaklanabilir. Akdeniz mutasyonu dışındaki diğer mutasyonların DNA dizi analizi ile saptanması bölgemizin özelliklerini daha iyi yansıtacaktır

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G6PD S218F Mediterranean Mutation Frequency in Children with Glucose-6-Phosphate Dehydrogenase Deficiency

Year 2014, Volume: 15 Issue: 1, 1 - 8, 01.04.2014

Abstract

Objectıve: To determine the incidence of Mediterranean glucose-6-phosphate dehydrogenase (G6PD) S218F mutation. Materials and Methods: Were included G6 PD deficiency cases whose enzyme level <6 with mutation analysis, and diagnosed between 2004-2012 at neonatology and pediatric hematology department in Adnan Menderes University Hospital. G6PD activity was determined by quantitative spectrohotometry and mutations were analyzed with LighCycler 5.1 real-time PCR melting-curve analysis. Results: Totaly 60 patients with the diagnosis of G6PD deficiency anemia admitted to hospital; 29 have neonatal jaundice and 31 have favizm. 44 patients (73.3%) were male, 16(26.7%) were female; favizm cases diagnosed 27(87%) patients were male and 4 (13%) were females. 17 cases of neonatal jaundice(58%) were male and 12(41.3%) were female. In 28 of 31 patients diagnosed with favizm have fatigue, 30 patients have jaundice and 22 have vomiting. The average time between the occurance of symptoms after eating fava is 6 hours (range, 2- 24 hours). Three patients who presented with jaundice in neonatal period had pathological jaundice, 16 patients had a history of prolonged jaundice. Exchange transfussion was applicated to 4 patients with hyperbilirubinemia. Totaly in 21 patients (35%) G6PD deficiency has been detected; 15 patients (25%) were homozygous, 6(10%) patient were heterozygous of G6PD Mediterranean S218F mutation was detected. Mutations detected in 13(42%) favizm, 8(27%) patients had neonatal jaundice. 1 of 15 patients with homozygous mutation (6.6%) were female and 14(93%) were male (p<0.001). All 6 patients with G6PD mutation S218F heterozygous were female. 4 of homozygous mutation detected patients had neonatal jaundice, 11 had jaundice after eating beans, 4 of patients with heterozygous mutations had neonatal jaundive, and 2 had jaundice after eating bean. There is nostastistically difference between G6PD S218F mutation incidence of favizm and neonatal jaundice in the newborns (p=0.13) Conclusion: We determined the incidence of mutations in G6PD Mediterranean S218F as 35%. This ratio is lower than the other investigations in our country with the ratio of 53-80%. This situation may be due to regional differences in the number of cases and case studies, such as caused by differences in characteristics. DNA sequence analysis of mutations other than the detection of mutations in the mediterrannean region determination better reflect the characteristics of our region.

References

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There are 67 citations in total.

Details

Other ID JA28GU29CZ
Journal Section Research Article
Authors

Engin Tetik This is me

Yusuf Ziya Aral This is me

Münevver Kaynak Türkmen This is me

Gökay Bozkurt This is me

Publication Date April 1, 2014
Published in Issue Year 2014 Volume: 15 Issue: 1

Cite

EndNote Tetik E, Aral YZ, Türkmen MK, Bozkurt G (April 1, 2014) G6PD S218F Mediterranean Mutation Frequency in Children with Glucose-6-Phosphate Dehydrogenase Deficiency. Meandros Medical And Dental Journal 15 1 1–8.