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   Abstract
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  Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 30  |  Issue : 4  |  Page : 286-289
 

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


Department of Nephrology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India

Date of Web Publication28-Mar-2020

Correspondence Address:
Dr. Malsawmkima Chhakchhuak
Department of Nephrology, All India Institute of Medical Sciences, Industrial Area, 2nd Phase, Basni, Jodhpur - 342 005, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


Read associated with this article

DOI: 10.4103/ijn.IJN_265_19

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  Abstract 


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.


Keywords: Acute kidney injury, atypical HUS, CFB gene, complement factor B, plasma exchange


How to cite this article:
Chhakchhuak M, Agarwal J. Novel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review. Indian J Nephrol 2020;30:286-9

How to cite this URL:
Chhakchhuak M, Agarwal J. Novel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review. Indian J Nephrol [serial online] 2020 [cited 2021 Jan 20];30:286-9. Available from: https://www.indianjnephrol.org/text.asp?2020/30/4/286/281579


This article has been retracted on request of the Authors and Editor-in-Chief of the journal.






 

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