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http://hdl.handle.net/11607/3939| Title: | Primer Trombositoz Düşünülen Çocuklarda Jak2 Mutasyon Varlığının Değerlendirilmesi |
| Other Titles: | Evaluation Jak2 Mutation Presence In Children Thinked For Primary Thrombocytosis |
| Authors: | Aral, Yusuf Ziya Uyar, Azime Aydın Adnan Menderes Üniversitesi, Sağlık Bilimleri Enstitüsü, Kök Hücre ve Rejeneratif Tıp Bölümü |
| Keywords: | Çocuk, hematopoetik kök hücre, JAK2 V617F mutasyonu, primer trombositoz. |
| Issue Date: | 2020 |
| Publisher: | Aydın Adnan Menderes Tıp Fakültesi, Sağlık Bilimleri Enstitüsü |
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| Abstract: | PRİMER TROMBOSİTOZ DÜŞÜNÜLEN ÇOCUKLARDA JAK2 MUTASYON VARLIĞININ DEĞERLENDİRİLMESİ Uyar A. Aydın Adnan Menderes Üniversitesi Sağlık Bilimleri Enstitüsü Kök Hücre ve Rejeneratif Tıp Programı, Yüksek Lisans Tezi, Aydın, 2020. Trombositoz, primer (esansiyel) ve sekonder (reaktif) olmak üzere ikiye ayrılır. Primer trombositoz, hematopoietik hücrelerin monoklonal veya poliklonal anormalliklerinden veya TPO biyolojisindeki anormalliklerden kaynaklanan miyeloproliferatif bir hastalıktır. Bu çalışmada amacımız primer trombositoz düşünülen çocuklarda JAK2 mutasyon sıklığını belirlemektir. Adnan Menderes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Polikliniği’ne 01 Ocak 2017-31 Temmuz 2018 tarihleri arasında başvuran ve trombosit sayısı >500.000/μL olan 150 çocuğun ailesi telefonla aranarak kontrol değerlendirme için çağrıldı. Elli çocuk, kontrol değerlendirme için aileleri tarafından getirilmedi. Elli çocuk ise trombosit sayısı normal saptandığı, 20 çocuk demir eksikliği anemisi tanısı aldığı ve 9 çocuk enfeksiyon ya da enflamasyona sekonder trombositoz düşünüldüğü için çalışmaya alınmadı. Primer trombositoz düşünülen 13’ü erkek (%61,9), 21 olgu çalışmaya dahil edildi. Ayrıntılı öykü ve fiziksel incelemenin yanı sıra tüm hastalarda hemogram, ESR, CRP, fibrinojen ve ferritin düzeyleri, serum demiri ve total serum demir bağlama kapasitelerine bakıldı. JAK2 V617F mutasyon analizi, “İpsogen® JAK2 RGQ PCR Kiti” (Qiagen, Almanya) ile test edilerek, Real Time-PCR yöntemi ile gerçekleştirildi. Hastaların yaş ortalaması 6,76±2,94 yıl (dağılım 3-13 yıl) idi. Öykü, fiziksel muayene, hemogram ve periferik kan yayma incelemesinde miyeloproliferatif hastalık düşündürecek bulguya rastlanmadı. Ortalama ferritin düzeyi 28,38±11,48 ng/mL, serum demir düzeyi 67,52±22,62 μg/dL, serum demir bağlama kapasitesi 269,4±52,26 μg/dL, fibrinojen düzeyi 288,0±43,40 mg/dL olarak saptandı. Tüm hastalarda CRP negatif ve ESR normaldi. Hastaların ortalama hemoglobin düzeyi 12,28±0,95 gr/dL, ortalama lökosit sayısı 9,120±950/μL, ortalama trombosit sayısı 613,000±96,820/μL (dağılım 504-830,000/μL) olarak bulundu. JAK2 V617F mutasyonu hiçbir hastada saptanmadı. Miyeloproliferatif hastalık düşündürecek öykü, fiziksel muayene ve/veya tam kan sayımı ve periferik kan yayma bulgusu olmayan primer trombositozlu çocuklarda JAK2 mutasyonu bakılmasının gerekli olmadığını düşünüyoruz. |
| URI: | http://hdl.handle.net/11607/3939 |
| Appears in Collections: | Yüksek Lisans |
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