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| CASE REPORT |
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| Year : 2020 | Volume
: 30
| Issue : 4 | Page : 286-289 |
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Novel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review
Malsawmkima Chhakchhuak, Jony Agarwal
Department of Nephrology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
| Date of Web Publication | 28-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
 Source of Support: None, Conflict of Interest: None  | Check |
Read associated with this article DOI: 10.4103/ijn.IJN_265_19
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 |
This article has been retracted on request of the Authors and Editor-in-Chief of the journal.
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