Atypical hemolytic uremic syndrome during induction chemotherapy in neuroblastoma, a rare phenomenon or common congenital predisposition?

Pediatr Blood Cancer. 2024 Sep;71(9):e31175. doi: 10.1002/pbc.31175. Epub 2024 Jul 3.

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a complement-mediated thrombotic microangiopathy sometimes associated with germline variants in genes of the complement system. Clinical findings of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury arise due to aberrant complement protein activation in the circulation. A 13-month-old boy with metastatic neuroblastoma (NB) developed aHUS during his first cycle of induction chemotherapy with germline testing revealing a complement factor H (CFH) gene mutation, currently classified as a variant of uncertain significance (VUS). Now he is in disease remission after successful complement blockade therapy, thus highlighting a unique presentation of aHUS in a patient with newly diagnosed NB.

Keywords: Atypical hemolytic uremic syndrome; neuroblastoma; thrombotic microangiopathy.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / adverse effects
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Atypical Hemolytic Uremic Syndrome* / drug therapy
  • Atypical Hemolytic Uremic Syndrome* / genetics
  • Atypical Hemolytic Uremic Syndrome* / pathology
  • Complement Factor H / genetics
  • Germ-Line Mutation
  • Humans
  • Induction Chemotherapy* / adverse effects
  • Infant
  • Male
  • Neuroblastoma* / drug therapy
  • Neuroblastoma* / genetics
  • Neuroblastoma* / pathology

Substances

  • Complement Factor H
  • CFH protein, human