Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review

We report a case of 47-year-old male with atypical hemolytic uremic syndrome (aHUS). He had low C3 levels and whole exome sequencing revealed heterozygous missense novel variation in exon 8 of the gene encoding complement factor B (CFB), leading to substitution of leucine for proline at codon 369 (c...

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Autores principales: Chhakchhuak, Malsawmkima, Agarwal, Jony
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/PMC7699664/
https://www.ncbi.nlm.nih.gov/pubmed/33273796
http://dx.doi.org/10.4103/ijn.IJN_265_19
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author Chhakchhuak, Malsawmkima
Agarwal, Jony
author_facet Chhakchhuak, Malsawmkima
Agarwal, Jony
author_sort Chhakchhuak, Malsawmkima
collection PubMed
description We report a case of 47-year-old male with atypical hemolytic uremic syndrome (aHUS). He had low C3 levels and whole exome sequencing revealed heterozygous missense novel variation in exon 8 of the gene encoding complement factor B (CFB), leading to substitution of leucine for proline at codon 369 (c.1106C>T; p.Pro369Leu). Following plasma exchanges and hemodialysis, the patient achieved hematological remission and became dialysis independent.
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spelling pubmed-76996642020-12-02 Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review Chhakchhuak, Malsawmkima Agarwal, Jony Indian J Nephrol Case Report We report a case of 47-year-old male with atypical hemolytic uremic syndrome (aHUS). He had low C3 levels and whole exome sequencing revealed heterozygous missense novel variation in exon 8 of the gene encoding complement factor B (CFB), leading to substitution of leucine for proline at codon 369 (c.1106C>T; p.Pro369Leu). Following plasma exchanges and hemodialysis, the patient achieved hematological remission and became dialysis independent. Wolters Kluwer - Medknow 2020 2020-03-28 /pmc/articles/PMC7699664/ /pubmed/33273796 http://dx.doi.org/10.4103/ijn.IJN_265_19 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
Chhakchhuak, Malsawmkima
Agarwal, Jony
Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
title Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
title_full Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
title_fullStr Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
title_full_unstemmed Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
title_short Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review
title_sort novel variation in cfb adult onset atypical hemolytic uremic syndrome: a case report and review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699664/
https://www.ncbi.nlm.nih.gov/pubmed/33273796
http://dx.doi.org/10.4103/ijn.IJN_265_19
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