Öz
Neonatal thrombosis is a serious event that can cause mortality or severe
morbidity. Although catheters are the most common cause of neonatal
thrombosis, spontaneous events can also occur. Arterial thrombosis is
very rare and accounts for approximately half of all thrombotic events in
neonates. Genetic prothrombotic risk factors may affect the occurence of
neonatal thrombosis. In this report, a case of left brachial, radial, and ulnar
arterial thrombosis associated with methylene-tetrahydrofolate reductase
(MTHFR) gene C677T and A1298C polymorphism heterozygosity is presented.
Plasma homocysteine level and other prothrombotic components
were normal. Standard heparin, aspirin, vitamin B12, B6 and folic acid
were initiated for treatment. However, the left arm of the patient was
amputated at the shoulder because its capillary stream could not be observed.
We suggest that MTHFR gene C677T and A1298C polymorphism
heterozygosity might be investigated in neonates with congenital arterial
thrombosis in spite of normal serum homocysteine levels.
Anahtar Kelimeler
Congenital arterial thrombosis methylene-tetrahydrofolate reductase gene polymorphsim
Kaynakça
- Nowak-Göttl U, Kosch A, Schlegel N. Neonatal thromboembo- lism. Semin Thromb Hemost 2003;29:227-34.
- Greenway A, Massicotte MP, Monagle P. Neonatal thrombosis and its treatment. Blood Rev 2004;18:75-84. [CrossRef]
- Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3. [CrossRef]
- Brattstrom L, Wileken DE, Ohrvik J, Brudin L. Common methy- lenetetrahydrofolate reductase gene mutatiton leads to hyper- homocysteinemia but not to vascular disease: the result of a meta-analysis. Circulation 1998;98:2520-6.
- Weisberg IS, Jacques PF, Selhub J, Bostom AG, Chen Z, Curtis El- lison R, et al. The 1298A→C polymorphism in methylenetetrahy- 333 2011; 28: 331-4 Özdemir ve ark. Konjenital Tromboz
Öz
Yenidoğanda tromboz mortaliteye ve/veya ağır morbiditeye neden olabilen
ciddi bir durumdur. Yenidoğan trombozunun en sık nedeni kateterler
olmakla birlikte, spontan gelişen olgular da görülebilmektedir. Arteriyel
tromboz çok nadir görülür ve yenidoğandaki trombotik olayların yaklaşık
yarısını oluşturmaktadır. Genetik protrombotik risk faktörleri yenidoğanda
tromboz oluşumunu etkilemektedir. Bu yazıda, metilen tetrahidrofolat redüktaz
(MTHFR) geni C677T ve A1298C polimorfizmi heterozigotluğu ile
ilişkilendirilen sol brakiyal, radiyal ve ulnar arter trombozu saptanan bir yenidoğan
olgusu sunuldu. Plazma homosistein düzeyi ve diğer protombotik
komponentleri normaldi. Standart heparin, aspirin, vitamin B12, B6 ve folik
asit tedavileri başlanan olguda sol kol, kapiller dolaşımı alınamadığı için
omuzdan ampute edildi. Plazma homosistein düzeyleri normal saptansa
da konjenital arteriyel trombozlu yenidoğanlarda MTHFR geni C677T ve
A1298C polimorfizmi araştırılmalıdır.
Kaynakça
- Nowak-Göttl U, Kosch A, Schlegel N. Neonatal thromboembo- lism. Semin Thromb Hemost 2003;29:227-34.
- Greenway A, Massicotte MP, Monagle P. Neonatal thrombosis and its treatment. Blood Rev 2004;18:75-84. [CrossRef]
- Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3. [CrossRef]
- Brattstrom L, Wileken DE, Ohrvik J, Brudin L. Common methy- lenetetrahydrofolate reductase gene mutatiton leads to hyper- homocysteinemia but not to vascular disease: the result of a meta-analysis. Circulation 1998;98:2520-6.
- Weisberg IS, Jacques PF, Selhub J, Bostom AG, Chen Z, Curtis El- lison R, et al. The 1298A→C polymorphism in methylenetetrahy- 333 2011; 28: 331-4 Özdemir ve ark. Konjenital Tromboz
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mart 2011 |
| Yayımlandığı Sayı | Yıl 2011 Cilt: 2011 Sayı: 3 |