Segmental Renal Artery Thrombosis Secondary to Methylene Tetrahydrofolate Reductase Mutation: an Unusual Presentation

Authors

  • Satish Mendonca Division of Nephrology, Department of Medicine, Armed Forces Medical College Pune and Command Hospital, Southern Command, Pune, India
  • Devika Gupta Department of Pathology, Armed Forces Medical College Pune and Military Hospital, Kirkee, India
  • Ankur Gupta Division of Nephrology, Department of Medicine, Max Superspeciality Hospital, Shalimar Bagh, New Delhi, India

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.

Author Biography

  • Ankur Gupta, Division of Nephrology, Department of Medicine, Max Superspeciality Hospital, Shalimar Bagh, New Delhi, India
    Nephrology department, Consultant

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Published

2012-11-09

Issue

Section

CASE REPORT | Kidney Diseases