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- Title
Novel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review.
- Authors
Chhakchhuak, Malsawmkima; Agarwal, Jony
- 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.
- Subjects
HEMOLYTIC-uremic syndrome treatment; HEMOLYTIC-uremic syndrome diagnosis; COMPLEMENT (Immunology); SEQUENCE analysis
- Publication
Indian Journal of Nephrology, 2020, Vol 30, Issue 4, p286
- ISSN
0971-4065
- Publication type
Article
- DOI
10.4103/ijn.IJN_265_19