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 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

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


DOI: 10.4103/ijn.IJN_265_19

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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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Indian Journal of Nephrology
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Online since 20th Sept '07