Ibrahim Halil DAMAR, Recep ERÖZ, Önder KILIÇASLAN

Down Sendromlu Hastalarda Kalıtsal Protrombotik Risk Faktörlerinin Sıklığı

Amaç: Down Sendromu (DS), kromozom 21 trizomisi olarak tanımlanır ve kardiyovasküler sistem hastalıkları ile ilişkilidir. Biz DS'li hastalarda kalıtsal trombofili genlerini (MTHFR A1298C, MTHFR C677T, Factor II G20210A, Factor V Leiden G1691A, Factor V Cambridge G1091C, Factor XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 ve ACE) incelemeyi amaçladık. Yöntem: Çalışmaya toplam 53 DS'lu hasta (32 erkek ve 21 kadın) dahil edildi. Olguların demografik, laboratuvar ve klinik özellikleri kaydedildi. 12 derivasyonlu Elektrokardiyogram (EKG), transtorasik ekokardiyografi ve kalıtsal trombofili genleri değerlendirildi. Bulgular: Hastaların klinik ve gelişimsel kusur bulguları yüksekti. Hastaların % 39,6'sı hem heterozigot MTHFR C677T hem de heterozigot MTHFR A1298C taşıyıcısı, hastaların % 18.9'u homozigot MTHFR A1298C taşıyıcısı, hastaların % 17'si heterozigot Faktör V Leiden G1691A taşıyıcısı, hastaların % 43,4'ü 4G / 4G taşıyıcısı, hastaların % 34'ü PAI için 4G / 5G varyasyon taşıyıcısı, hastaların % 22,7'si heterozigot Factor XIII taşıyıcısı, hastaların% 49,1'i ins / del taşıyıcısı ve hastaların% 37,7'si ACE için del / del varyasyon taşıyıcısı idi. Tüm hastalarda, kalıtsal trombofili için homozigot ve / veya bileşik heterozigot varyasyonlardan en az biri vardı. Sonuç: DS'lu hastalar tromboz ilişkili kardiyovasküler sistem hastalıkları açısından yüksek risk taşımaktadır. Kalıtsal trombofili ile ilişkili komplikasyonları azaltmak için alınacak önlemlerle (tıbbi, sosyal, yaşam tarzı vb. ile ilgili) DS'lu bireylerin ortalama yaşam beklentisinin artırılabileceği söylenebilir.

Anahtar Kelimeler:

Down Sendromu, kalıtsal trombofili, protrombotik risk faktörleri

Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome

Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C, MTHFR C677T, Factor II G20210A, Factor V Leiden G1691A, Factor V Cambridge G1091C, Factor XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 and ACE) in patients with DS. Materials and Methods: A total of 53 patients with DS (32 male and 21 female) were included in the study. Demographical, laboratory and clinical features of cases were recorded. 12-lead Electrocardiogram (ECG), transthoracic echocardiography and the inherited thrombophilia genes were evaluated. Results: The clinical and developmental defect findings of the patients were high. The 39.6% of patients had both heterozygous MTHFR C677T and heterozygous MTHFR A1298C carriers, the 18.9% of patients had homozygous MTHFR A1298C carriers, the 17% of patients had heterozygous Factor V Leiden G1691A carriers, the 43.4% of patients had 4G/4G carriers, the 34% of patients had 4G/5G variation carriers for PAI, the 22.7% of patients had heterozygous FactorXIII carriers, the 49.1% of patients had ins/del carriers and the 37.7% of patients had del/del variation carriers for ACE. All patients had at least one of the homozygous and/or compound heterozygous variations for the inherited thrombophilia. Conclusions: The patients with DS have a high risk for thrombosis-related cardiovascular system diseases. It may be said that the average life expectancy of individuals with DS may be increased by precautions (related to medical, social, lifestyle, etc.) to reduce complications associated with hereditary thrombophilia.

Keywords:

Down Syndrome inherited thrombophilia, prothrombotic risk factors, cardiovascular diseases,

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ISSN: 1309-3878
Yayın Aralığı: Yılda 3 Sayı
Başlangıç: 2009
Yayıncı: Düzce Üniversitesi Tıp Fakültesi Aile Hekimliği AD adına Yrd.Doç.Dr.Cemil Işık Sönmez