Isolated renal vein thrombosis is very rare without the presence of nephrotic syndrome. It is more common in the newborns and infants. Whereas major risk factors in adults are the procoagulant states such as protein C or S deficiency, factor V Leiden mutation, primary or secondary antiphospholipid syndrome, severe hypothyroidism, and trauma. Here, we report a case of isolated renal vein thrombosis associated with MTHFR-1298 and PAI-1 4G gene mutations. It should be noted that the presence of MTHFR-1298 and PAI-1 4G gene mutations together might be one of the examples of genetic mutation combinations that increase the likelihood of a thrombotic event.
Bashir R., Tinkel J., Malhotra D.Renal vein thrombosis: a case report. Angiology. 2007;58(5):640-643.
3.
Lane DA, Mannucci PM, Bauer KA, et al. Inherited thrombophilia: part 2. Thromb Haemost . 1996;76(6):824-834.
4.
Heller C., Schobess R., Kurnik K., et al. Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors-a multicentre case-control study. For the Childhood Thrombophilia Study Group. Br J Haematol. 2000;111(2):534-539.
5.
Kishi S., Griener J., Cheng C., et al. Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. J Clin Oncol. 2003;21(16):3084-3091.
6.
Winyard PJ, Bharucha T., De Bruyn R., et al. Perinatal renal venous thrombosis: presenting renal length predicts outcome. Arch Dis Child Fetal Neonatal Ed. 2006;91(4):F273-F278.
7.
Varela ML, Adamczuk YP, Forastiero RR, et al. Major and potential prothrombotic genotypes in a cohort of patients with venous thromboembolism. Thromb Res. 2001 ;104(5):317-324.
8.
Akar N., Akar E., Akçay R., Avcu F., Yalcin A., Cin S. Effect of methylenetetrahydrofolate reductase 677 C-T, 1298 A-C and 1317 T-C on factor V 1691 mutation in Turkish deep vein thrombosis patients . Thromb Res. 2000;97(3):163-167.
9.
Spiroski I., Kedev S., Antov S., et al. Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis. Acta Biochim Pol . 2008;55(3):587-594.
10.
Bang CO, Park HK, Ahn MY, Shin HK, Hwang KY, Hong SY4G/5G polymorphism of the plasminogen activator inhibitor-1 gene and insertion/deletion polymorphism of the tissue-type plasminogen activator gene in atherothrombotic stroke. Cerebrovasc Dis. 2001;11(4):294-299.
