title: Acute renal infarction associated with homozygous methylenetetrahydrofolate reductase mutation C677T and IgA beta-2-glycoprotein antibodies.
abstract: Arterial thrombosis of the kidney(s) is a rare clinical entity usually presenting as a result of cardioembolic disease, though rare inherited hypercoagulable states have also been implicated. Within this context, both hyperhomocysteinemia triggered by a mutated methylenetetrahydrofolate reductase (MTHFR) gene product and the presence of antiphospholipid antibodies have been separately associated with arterial thrombotic events, including renal artery embolism. We present a case of combined homozygous MTHFR C677T mutation and IgA beta-2-glycoprotein antibody positivity resulting in acute renal infarction and previous silent myocardial infarction. An acute and otherwise unexplained thrombotic event of unusual location always warrants further investigation, which should include testing for hereditary thrombophilic disorders.
authors.affiliation: Department of Internal Medicine, Lutheran Medical Center, Brooklyn, New York, USA.
authors.forename: Panagiotis J
authors.initials: PJ
authors.lastname: Vlachostergios
authors.forename: François
authors.initials: F
authors.lastname: Dufresne
mesh_terms: D000208:Acute Disease; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000378:metabolism*; D007238:Infarction; D007674:Kidney Diseases / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D019851:Thrombophilia; D014057:Tomography, X-Ray Computed / Q000379:methods*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)