Buket Kılıçaslan, Nalan Yazıcı, İlknur Erol, Ayşe Erbay

Trombozla başvuran pediatrik hastaların risk faktörleri açısından retrospektif olarak değerlendirilmesi: tek merkez deneyimi

Amaç: Çocuklarda tromboz hem genetik hem de kazanılmış faktörlerle ilişkilendirilmiş olup, multifaktöryeldir. İdiopatik tromboz nadirdir. Bu çalışmada, özellikle Türkiye’nin güney kesiminde önemli bir referans hastanesi konumunda olan Başkent Üniversitesi Adana Uygulama ve Araştırma Merkezi’nde tromboz nedeniyle izlenen pediatrik hastaların tromboz etyolojisi ve risk faktörlerinin gözden geçirilmesi planlanmıştır.Gereç ve Yöntem: Tromboz nedeniyle izlenen 49 pediatrik hasta, retrospektif olarak değerlendirildi. Hastaların tromboz tanı yaşı, cinsiyeti, tromboz açısından aile öyküsü, trombozun lokalizasyonu, altta yatan primer hastalık ve kateter varlığı ile genetik risk faktörleri retrospektif olarak araştırıldı.Bulgular: Tromboz tanısı konulduğu çalışma dönemindeki polikliniğimize başvuran çocuk sayısı 10358 idi. Tromboz insidansı 49/10358 olarak hesaplandı. Hastaların median yaşı 5,1 (0-17.2 yıl aralığında) olup, 32’si (%65.3) erkekti. Tromboza eğilim yaratan primer genetik faktörler araştırıldığında, genetik mutasyon analizi hastaların sadece bir kısmına yapılabildi. Bakılabilen hastaların 5’inde Faktör V Leiden mutasyonu, 13’ünde MTHFR 1298C mutasyonu, 18’inde MTHFR 677CT mutasyonu saptandı. Yedi hastada, birden fazla mutasyonun bir arada olduğu görüldü. Lipoprotein (a) yüksekliği ile mutasyon dağılımı arasında ilişki olup olmadığı araştırıldığında, mutasyon saptanan 7 hastada lipoprotein (a) düzeyi normal bulunurken, mutasyon saptanan 10 hastada yüksek lipoprotein (a) düzeyi bulundu.Sonuç: Lipoprotein (a) yüksekliği, kalıtsal risk faktörlerinden biri olup, moleküler genetik yöntemleri ile taranan mutasyon tarama tetkikleri kadar önemli olabilecek bir risk faktörü olduğunu, yaptığımız çalışmada bulduğumuz sonuçla, önemle vurgulamaktayız.

Anahtar Kelimeler:

Tromboz, risk faktörleri, pediatric

Retrospective evaluation of pediatric inpatients admitted with thrombosis according to risk factors: single center experience

Purpose: Thrombosis in children is a multifactorial disorder associated with both genetic and acquired factors. Idiopathic thrombosis is a rare condition. This study aimed to examine the etiology and risk factors of thrombosis in pediatric patients followed at Baskent University Adana Teaching and Research Center, a reference hospital in the southern part of Turkey.Material and Methods: This study included a sample of 49 pediatric patients who were retrospectively evaluated. The patient records were examined retrospectively in terms of age at diagnosis with thrombosis, gender, family history of thrombosis, localization of thrombosis, underlying primary disease and presence of catheter, as well as indicators of genetic risk factors. Results: The number of children presenting to our clinic during the study period was 10358. The incidence of thrombosis was calculated as 49 cases in 10358 children. The median age of the patients was 5.1 years (ranging from 0 to 17.2 years), and there were 32 (65.3%) males. In the analysis of the genetic factors causing susceptibility to primary thrombosis, only a portion of the patients were studied for genetic mutations. Among these, 5 patients showed factor V Leiden mutation, 13 patients MTHFR 1298C mutation, and 18 patients MTHFR 677CT mutation. Seven patients were found have a combination of multiple mutations. When we investigated any possible correlation between high lipoprotein (a) levels and the distribution of mutations, we found that 7 patients with mutations had normal levels of high lipoprotein (a), while other 10 patients with mutations were found to have elevated levels of lipoprotein (a).Conclusion: We conclude and strongly emphasize that lipoprotein (a) elevation is one of the important genetic risk factors, which might prove a major risk indicator, as valuable as other mutation screening tests performed by molecular genetics

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