Novel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review

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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Bibliographic Details
Main Authors: Malsawmkima Chhakchhuak, Jony Agarwal
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Journal of Nephrology
Subjects:
acute kidney injury
atypical hus
cfb gene
complement factor b
plasma exchange
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2020;volume=30;issue=4;spage=286;epage=289;aulast=Chhakchhuak
Description
Summary: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.
ISSN:0971-4065
1998-3662

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