Hemolytic uremic syndrome associated with Bordetella pertussis infection in a 2-month-old infant carrying a pathogenic variant in complement factor H

Pediatr Nephrol. 2019 Mar;34(3):533-537. doi: 10.1007/s00467-018-4174-1. Epub 2018 Dec 17.

Abstract

Background: Hemolytic uremic syndrome (HUS) has been associated with a number of infectious agents. We report here the case of an infant with severe Bordetella pertussis infection who developed HUS.

Case diagnosis/treatment: A 2-month-old preterm male was admitted for severe Bordetella pertussis infection. Symptoms leading to a diagnosis of hemolytic uremic syndrome (HUS) rapidly appeared: hemolytic anemia, thrombocytopenia, and acute kidney injury. He was treated with 25 days of peritoneal dialysis and received complement-targeting therapy with eculizumab (five injections over 2 months), in addition to blood transfusions, antibiotics, and respiratory support. The outcome was favorable. The genetic workup found a complement factor H gene variant which has been associated with atypical HUS. This variant was located in the C3b-binding site and functional tests revealed that it perturbed the regulatory activity of factor H.

Conclusion: This case suggests that pertussis is a strong trigger of HUS and that complement investigations are necessary to guide treatment and understand the pathophysiology.

Keywords: Atypical HUS; Bordetella pertussis infection; Complement factor H; Eculizumab; Infant.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anti-Bacterial Agents / therapeutic use
  • Antibodies, Monoclonal, Humanized / therapeutic use
  • Atypical Hemolytic Uremic Syndrome / genetics
  • Atypical Hemolytic Uremic Syndrome / immunology
  • Atypical Hemolytic Uremic Syndrome / microbiology*
  • Atypical Hemolytic Uremic Syndrome / therapy
  • Binding Sites / genetics
  • Blood Transfusion
  • Bordetella pertussis / immunology*
  • Bordetella pertussis / isolation & purification
  • Complement Activation / genetics
  • Complement Activation / immunology
  • Complement C3b / immunology
  • Complement C3b / metabolism*
  • Complement Factor H / genetics*
  • Complement Factor H / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature
  • Male
  • Peritoneal Dialysis
  • Polymorphism, Single Nucleotide
  • Whooping Cough / complications*
  • Whooping Cough / immunology
  • Whooping Cough / microbiology

Substances

  • Anti-Bacterial Agents
  • Antibodies, Monoclonal, Humanized
  • Complement C3b
  • Complement Factor H
  • eculizumab