Novel variation in CFB adult onset atypical hemolytic uremic syndrome: A case report and review | Zendy

Malsawmkima Chhakchhuak | Zendy; Jony Agarwal | Zendy

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Novel 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

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.

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