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Official publication of the Indian Society of Nephrology
 
CASE REPORT
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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

Correspondence Address:
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

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.


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    -  Chhakchhuak M
    -  Agarwal J
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Indian Journal of Nephrology
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Online since 20th Sept '07