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.
Original language | English (US) |
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Article number | e31175 |
Journal | Pediatric Blood and Cancer |
Volume | 71 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2024 |
Externally published | Yes |
Keywords
- Atypical hemolytic uremic syndrome
- neuroblastoma
- thrombotic microangiopathy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology