Makale detayı · 2013
The Genetic Determination of Tendency to Cardiovascular Disease in the Two Bardet Biedl Syndrome Cases
Türkiye Çocuk Hastalıkları Dergisi
- Yıl
- 2013
- ISSN
1307-4490- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
İngilizce (OpenAlex)
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
Konular
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Metalloenzymes and iron-sulfur proteins
Birincil konu Genetic and Kidney Cyst Diseases