title: Isolated renal vein thrombosis associated with MTHFR-1298 and PAI-1 4G gene mutations.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Duzce University, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Cinemre
authors.forename: Cemil
authors.initials: C
authors.lastname: Bilir
authors.forename: Nermin
authors.initials: N
authors.lastname: Akdemir
mesh_terms: D000328:Adult; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D012082:Renal Veins / Q000473:pathology*; D020246:Venous Thrombosis / Q000201:enzymology / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)