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Pediatric Nephrology

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01-05-2017 | Brief Report

Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab

Authors: Khalid Alfakeeh, Mohammed Azar, Majid Alfadhel, Alsuayri Mansour Abdullah, Nourah Aloudah, Khaled O. Alsaad

Published in: Pediatric Nephrology | Issue 5/2017

Abstract

Background

Complement factor B gene (CFB) is an important component of the alternate pathway of complement activation that provides an active subunit that associates with C3b to form the C3 convertase, which is an essential element in complement activation. Among the complement-associated disorders, mutations and pathogenic variants in the CFB gene are relatively rare phenomena. Moreover, mutated CFB affiliation with immune-complex diffuse membranoproliferative glomerulonephritis (IC-MPGN) and atypical hemolytic uremic syndrome (aHUS) are considered a highly rare occurrence.

Case presentation

We describe the clinical presentation, course, and pathological findings in a 7-year-old boy who has confirmed CFB heterozygous variants with pathological features compatible with IC-MPGN. Mutational analysis revealed a heterozygous variant p.Glu566Arg in exon 13 of the CFB gene. The patient did not respond to steroids and mycophenolate mofetil (MMF) therapy but responded clinically and biochemically to eculizumab treatment. This is the first case report of CFB alteration associated with IC-MPGN and aHUS that was successfully treated with eculizumab.

Conclusions

Heterozygous variants in the CFB gene can be pathogenic and associated with IC-MPGN and aHUS. Early diagnosis and prompt management can be essential in preventing end-stage renal disease. Eculizumab may provide an effective modality of treatment.

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Title: Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab
Authors: Khalid Alfakeeh
Mohammed Azar
Majid Alfadhel
Alsuayri Mansour Abdullah
Nourah Aloudah
Khaled O. Alsaad
Publication date: 01-05-2017
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 5/2017
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-016-3577-0

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Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab

Abstract

Background

Case presentation

Conclusions

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Springer Medicine

Abstract

Background

Case presentation

Conclusions

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