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Pulmoner Tromboembolide Genetik Risk Faktörleri (Beş Olgu Nedeniyle)

Genetic Risk Factors In Pulmonary Thromboemboli (Reports of Five Cases)

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Abstract (2. Language): 
Pulmonary thromboembolus is a disease with high mortality and morbidity. In addition to well known and frequent risk factors, there are some rare congenital predisposing factors. In five of 43 patients (11.6%) diagnosed as pulmonary embolus between 1998 and 2001 in our clinic we detected a genetic risk factor for venous thromboemboli. Except one patient, there were no formerly known genetic risk factor. Due to our results, it can be proposed that the genetical predisposition should be searched in patients who developed venous thromboemboli without any known risk factor. We discussed 3 patients with antiphospholipid syndrome, one patient with protein C deficiency and one patient with protein S deficiency and activated protein C resistance (APC-R), in total 5 cases, with regard to current literature.
Abstract (Original Language): 
Pulmoner tromboemboli mortalite ve morbiditesi yüksek bir hastalıktır. Hastalık için bilinen ve sık görülen risk faktörlerinin yanı sıra, kongenital predispozisyon yaratan nadir durumlar da vardır. Kliniğimizde 1998-2001 yıllarında takip edilen pulmoner tromboembolili 43 hastanın beşinde (%11.6) venöz tromboemboli için genetik risk faktörü saptadık. Hastaların biri dışında hiçbirisinde daha önceden bilinen bir genetik risk faktörü yoktu. Bu yüzden; bilinen bir risk faktörü olmadığı halde, venöz tromboemboli gelişen hastalarda genetik yatkınlık sebepleri araştırılmalıdır. Biz antifosfolipid sendromlu üç, protein C eksikliği olan bir ve protein S eksikliği- aktive protein C rezistansla (APC-R) bir olguda gelişen pulmoner tromboembolili toplam beş olguyu, ilgili literatür eşliğinde tartıştık.
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