Öz

Bardet-Biedl sendromu (BBS) abdominal obezite, mental retardasyon, polidaktili, hipogonadizm, retinal pigmenter retinopati ve böbreğin yapısal/işlevsel anomalileri ile karakterize otozomal resesif geçişli genetik bir bozukluktur. BBS gibi obezite ile giden sendromik olgularda miyokard infarktüsü ve tromboembolik olayların yaşamın erken döneminde gelişebileceği göz önünde bulundurulmalıdır. Bu çalışmada, BBS’li iki olguda kardiyovasküler hastalık yatkınlık gen polimorfizmlerinin varlığı araştırıldı. Her iki olguda da Faktör V, XIII, metilentetrahidrofolatredüktaz (MTHRF), plazminojen aktivator inhibitör 1 (PAI-1) (4G/5G), glikoprotein IIIa reseptör (HPA-1), and Apoprotein-E3/3 gen polimorfizmleri saptandı. Sonuç olarak sendromik olgularda erken dönemde gelişebilecek tromboembolik hastalıklar ve miyokard infarktüsü yönünden dikkatli olmak gerekir. Genetik yatkınlık saptanan bu olguları özellikle dehidratasyon, şiddetli enfeksiyon ve ameliyat gibi risk durumlarında sıkı izlem ve proflaksi yaşam kurtarıcı olabilir.

Anahtar Kelimeler: Bardet-Biedl sendromu, Kardiyovasküler hastalık, Genetik yatkınlık

Referanslar

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Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Ergür AT, Ergür AT, Öktem A, Akyıldız S. İki Bardet Biedl Sendromlu Olgunun Kardiyovasküler Hastalık Yatkınlığının Genetik Olarak Belirlenmesi. Turk J Pediatr Dis [Internet]. 2013 Oct. 1 [cited 2025 May 25];7(3):149-53. Available from: https://turkjpediatrdis.org/article/view/228