Open AccessNovel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review
Author(s) -
Malsawmkima Chhakchhuak,
Jony Agarwal
Publication year - 2020
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/ijn.ijn_265_19
Subject(s) - atypical hemolytic uremic syndrome , medicine , missense mutation , exon , exome sequencing , hemolysis , compound heterozygosity , mutation , genetics , gene , immunology , complement system , antibody , biology
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.