Novel Variation in CFB Adult Onset Atypical Hemolytic Uremic Syndrome: A Case Report and Review

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...

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Detalles Bibliográficos
Autores principales: Chhakchhuak, Malsawmkima, Agarwal, Jony
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699664/
https://www.ncbi.nlm.nih.gov/pubmed/33273796
http://dx.doi.org/10.4103/ijn.IJN_265_19
Descripción
Sumario: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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