İki Bardet Biedl Sendromlu Olgunun Kardiyovasküler Hastalık Yatkınlığının Genetik Olarak Belirlenmesi

Year 2013, Volume: 7 Issue: 3, 149 - 153, 01.10.2013

Ayça Törel Ergür Özkan Ergür Ahmet Öktem Suzan Akyıldız

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

References

• Berberoğlu M, Evliyaoğlu O, Adiyaman P, Ocal G, Ulukol B,Simsek F, et al. Plasminogen activator inhibitor-1 (PAI-1)gene polymophism (-675 4G/5G) associated with obesity and vascular risk in children. J Pediatr Endocrinol Metab 2006;19;741-8.
• Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci 2006;47:5004-10.
• Benzinou M, Walley A, Lobbens S, Charles MA, Jouret B, Fumeron F, et al. Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes 2006;55:2876-82.
• Croft JB, Swift M. Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. Am J Med Genet 1990;36:37-42.
• Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet 2005;77:1021-33.
• Heon E, Westall C, Carmi R, Elbedour K, Panton C,Mackeen L, et al. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A 2005;132A:283-7.
• Dollfus H, Verloes A, Bonneau D, Cossee M, Perrin-Schmitt F, Brandt C, et al. Update on Bardet-Biedl syndrome. J Fr Ophtalmol 2005;28:106-12.
• Iannaccone A, Mykytyn K, Persico AM, Searby CC, Baldi A, Jablonski MM, et al. Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Am J Med Genet A 2005;132:343-6.
• Fan Y, Rahman P, Peddle L, Hefferton D, Gladney N, Moore SJ, et al. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. Int J Obes Relat Metab Disord 2004;28:680-4.
• Grace C, Beales P, Summerbell C, Jebb SA, Wright A, Parker D, et al. Energy metabolism in Bardet-Biedl syndrome. Int J Obes Relat Metab Disord 2003;27:1319-24.
• Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obes Rev 2002;3:123-35.
• Kiess W, Reich A, Muller G, Meyer K, Galler A, Bennek J,et al. Clinical aspects of obesity in childhood and adolescence-diagnosis, treatment and prevention. Int J Obes Relat Metab Disord 2001;25 Suppl 1:S75-9.
• McLoughlin TG, Shanklin DR. Pathology of Laurence-Moon- Biedl Syndrome. J Pathol Bacteriol 1967;93:65-79.
• Croft JB, Morrell D, Chase CL, Swift M. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am J Med Genet 1995;2;55:12-5.
• Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients. Am J Med Genet 2000;90:80-1.