title: Segmental renal artery thrombosis secondary to methylene tetrahydrofolate reductase mutation: an unusual presentation.
abstract: Methylene tetrahydrofolate reductase (MTHFR) is an enzyme involved in the metabolism of homocysteine to methionine, and folic acid is an essential cofactor. Mutations in the MTHFR gene lead to hyperhomocysteinemia and vascular thrombosis. Heterozygous mutation involving a single nucleotide polymorphism in the MTHFR gene leading to vascular thrombosis is very rare. We present a case of segmental renal artery thrombosis secondary to this mutation and to the best of our knowledge, it is the first case to be reported. Though easily treatable, this is a condition which is seldom investigated in the workup of thrombotic disorders.
authors.affiliation: Division of Nephrology, Department of Medicine, Max Superspeciality Hospital, Shalimar Bagh, New Delhi, India.
authors.forename: Satish
authors.initials: S
authors.lastname: Mendonca
authors.forename: Devika
authors.initials: D
authors.lastname: Gupta
authors.forename: Ankur
authors.initials: A
authors.lastname: Gupta
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012077:Renal Artery; D013927:Thrombosis / Q000235:genetics*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)