Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation

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 fami...

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Autores principales: Bhalla, Anil K., Bhargava, Vinant, Meena, Priti, Bhoiyar, Ashish, Yadav, Ajay, Rana, Devinder S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869650/
https://www.ncbi.nlm.nih.gov/pubmed/33707820
http://dx.doi.org/10.4103/ijn.IJN_65_20
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author Bhalla, Anil K.
Bhargava, Vinant
Meena, Priti
Bhoiyar, Ashish
Yadav, Ajay
Rana, Devinder S.
author_facet Bhalla, Anil K.
Bhargava, Vinant
Meena, Priti
Bhoiyar, Ashish
Yadav, Ajay
Rana, Devinder S.
author_sort Bhalla, Anil K.
collection PubMed
description 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.
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spelling pubmed-78696502021-03-10 Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation Bhalla, Anil K. Bhargava, Vinant Meena, Priti Bhoiyar, Ashish Yadav, Ajay Rana, Devinder S. Indian J Nephrol Case Report 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. Wolters Kluwer - Medknow 2020 2020-08-27 /pmc/articles/PMC7869650/ /pubmed/33707820 http://dx.doi.org/10.4103/ijn.IJN_65_20 Text en Copyright: © 2020 Indian Journal of Nephrology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Bhalla, Anil K.
Bhargava, Vinant
Meena, Priti
Bhoiyar, Ashish
Yadav, Ajay
Rana, Devinder S.
Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation
title Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation
title_full Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation
title_fullStr Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation
title_full_unstemmed Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation
title_short Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation
title_sort bilateral acute renal infarction secondary to methylene tetrahydrofolate reductase a1298c and pai-1 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869650/
https://www.ncbi.nlm.nih.gov/pubmed/33707820
http://dx.doi.org/10.4103/ijn.IJN_65_20
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