İki Bardet Biedl Sendromlu Olgunun Kardiyovasküler Hastalık Yatkınlığının Genetik Olarak Belirlenmesi

Abstract

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.

Keywords

• Bardet-Biedl sendromu, Kardiyovasküler hastalık, Genetik yatkınlık

The Genetic Determination of Tendency to Cardiovascular Disease in the Two Bardet Biedl Syndrome Cases

Abstract

Bardet-Biedl syndrome (BBS) is a genetic autosomal recessive disorder, characterized by abdominal obesity, mental retardation, polydactyly, hypogonadism, retinal pigmentary retinopathy, and renal constitutional abnormalities or functional impairment. In syndromic cases with obesity such as BBS, possibility of myocardial infarction and thromboembolic events at early ages should be considered. In this study, polymorphisms on cardiovascular disease susceptibility genes were investigated in two Bardet-Biedl cases. In both cases, polymorphisms were detected on Factor V, Factor XIII, methylenetetrahydrofolate reductase (MTHRF), Plasminogen activator inhibitor-1 (PAI-1) (4G/5G), Glycoprotein IIIa receptor (HPA-1), and Apoprotein-E3/3 genes. In conclusion, in syndromic cases, possibility of thromboembolic diseases and myocardial infarction at early ages should be kept in mind. Monitoring and prophylaxis may be life saving for these cases with genetic susceptibility especially during the conditions of dehydration, severe infection, and operation

Keywords

• Bardet-Biedl syndrome, Cardiovascular disease, Genetic susceptibility

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