Open AccessBilateral acute renal infarction secondary to methylene tetrahydrofolate reductase A1298C and PAI-1 mutation
Author(s) -
Anil Kumar Bhalla,
Vinant Bhargava,
Priti Meena,
Ashish Bhoiyar,
Ajay Yadav,
Devinder Singh Rana
Publication year - 2020
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/ijn.ijn_65_20
Subject(s) - medicine , methylene , methylenetetrahydrofolate reductase , reductase , mutation , pharmacology , biochemistry , medicinal chemistry , enzyme , gene , chemistry , genotype
We present this rare case of hyperhomocysteinemia due to a mutation in methylene-tetrahydrofolate-reductase (MTFHR) combined with plasminogen activator inhibitor deficiency, causing bilateral renal artery thrombosis. This case highlights the importance of genetic screening in individuals with a family history of thrombotic diseases. There seems to be a role of intervention, even in the setting of renal infarction.