Konjenital Nötropenili On Çocukta Klinik, Laboratuvar ve Moleküler İncelemeler Desteğinde Tedavi ve Takibe Yaklaşım
Küçük Resim Yok
Tarih
2016
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Ağır konjenital nötropeniler, nadir görülen matür nötrofillerin eksikliği ile karakterize immün yetersizlik hastalığıdır. Çalışmamızda amaç Ege Üniversitesi Tıp Fakültesi Pediatrik İmmünoloji Kliniğimizde izlenen ve genetik analiz yapılan 10 nötropeni olgusunun moleküler, klinik ve diğer laboratuvar bulguları ile değerlendirilmesi ve fenotip-genotip ilişkisinin araştırılmasıdır.Gereç ve Yöntemler: Ege Üniversitesi Tıp Fakültesi Pediatrik İmmünoloji Kliniğimizde takip edilen toplam on hastanın klinik, laboratuvar ve tedavi verileri elde edilerek mutasyon analizi yapıldı.Bulgular: Aynı aileden olan üç olguda HAX1 mutasyonu saptanırken, bir olguda ELANE/ELA-2 mutasyonu gösterildi. Yaşla beraber nötrofil sayıları ve klinik bulguları spontan düzelen olgular (n=5) ile genetik olarak doğrulanmış ağır konjenital nötropeni olgularının tanı anında bakılan hemogram ve immunoglobulin değerleri karşılaştırıldığında, düzelmeyen grupta monosit oranı ile IgG/M/A değerlerinin istatistiksel olarak anlamlı yüksek olduğu görüldü.Sonuç: Tanı anında nötropeniye eşlik eden belirgin eosinofili, monositoz ve hipergammaglobulinemi saptanan olgularda nötropenilerinin persiste etme riskinin ve genetik tanıya ulaşabilme şansının daha yüksek olduğu kanısına varılmıştır.
Aim: Severe congenital neutropenia is a rare immunodeficiency disease characterized by lack of mature neutrophils. We evaluated the association between the molecular, clinical and laboratory findings together with genotype-phenotype relationship in 10 patients with neutropenia. Materials and Methods: The clinical and laboratory findings of ten patients with severe congenital neutropenia were obtained and the diagnosis was confirmed by mutation analysis.Results: The mutation analysis by DNA sequencing revealed HAX-1 mutation in 3 patients from the same family and ELANE/ELA-2 mutation in 1 patient. We compared the patients who had normalization in neutrophil counts and clinical findings spontaneously by age with the patients with HAX1 and ELANE/ELA2 defects and observed that patients with known genetic defects had higher monocyte and immunoglobulin levels on admission. Conclusion: The risk of persistence of neutropenia and the chance to reach a genetic diagnosis is higher in neutropenic patients who have accompanying eosinophilia, monocytosis and hypergammaglobulinemia at the time of initial investigation.
Aim: Severe congenital neutropenia is a rare immunodeficiency disease characterized by lack of mature neutrophils. We evaluated the association between the molecular, clinical and laboratory findings together with genotype-phenotype relationship in 10 patients with neutropenia. Materials and Methods: The clinical and laboratory findings of ten patients with severe congenital neutropenia were obtained and the diagnosis was confirmed by mutation analysis.Results: The mutation analysis by DNA sequencing revealed HAX-1 mutation in 3 patients from the same family and ELANE/ELA-2 mutation in 1 patient. We compared the patients who had normalization in neutrophil counts and clinical findings spontaneously by age with the patients with HAX1 and ELANE/ELA2 defects and observed that patients with known genetic defects had higher monocyte and immunoglobulin levels on admission. Conclusion: The risk of persistence of neutropenia and the chance to reach a genetic diagnosis is higher in neutropenic patients who have accompanying eosinophilia, monocytosis and hypergammaglobulinemia at the time of initial investigation.
Açıklama
Anahtar Kelimeler
Pediatri
Kaynak
The Journal of Pediatric Research
WoS Q Değeri
Scopus Q Değeri
Cilt
3
Sayı
1
