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Atypical Hemolytic Uremic Syndrome During Induction Chemotherapy in Neuroblastoma, a Rare Phenomenon or Common Congenital Predisposition?
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  • Meghan Davitt,
  • Rachel Offenbacher,
  • Michelle A. Lee,
  • David M. Loeb,
  • Deepa Manwani,
  • William Mitchell,
  • Daniel Weiser
Meghan Davitt
Children's Hospital at Montefiore

Corresponding Author:[email protected]

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Rachel Offenbacher
Children's Hospital at Montefiore
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Michelle A. Lee
Children's Hospital at Montefiore
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David M. Loeb
Children's Hospital at Montefiore
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Deepa Manwani
Children's Hospital at Montefiore
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William Mitchell
Children's Hospital at Montefiore
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Daniel Weiser
Children's Hospital at Montefiore
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Abstract

Atypical hemolytic uremic syndrome (aHUS) is an infrequently encountered complement-mediated thrombotic microangiopathy (TMA) usually associated with germline variants in genes of the complement system. Clinical findings of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) with severe hypertension arise due to aberrant complement protein activation in the circulation and significant endothelial damage. Transplant-associated thrombotic microangiopathy has been increasingly recognized after high dose carboplatin, etoposide, and melphalan-chemotherapy followed by autologous hematopoietic stem cell rescue for treatment of children with neuroblastoma (NB). We report the case of a 13-month-old boy with metastatic neuroblastoma who developed aHUS during the first cycle of induction chemotherapy. Germline testing revealed a Complement factor H (CFH) gene mutation, Cys357Arg, which is currently classified as a variant of uncertain significance (VUS), although likely pathogenic based on molecular modeling as well as this patient’s clinical presentation. The patient has been successfully managed with complement blockade therapy with no recurrence of disease. We review presentations of neuroblastoma with hypertension, along with AKI and thrombocytopenia, to raise awareness about the potential for aHUS in patients with newly diagnosed NB.
21 Mar 2024Submission Checks Completed
21 Mar 2024Assigned to Editor
21 Mar 2024Submitted to Pediatric Blood & Cancer
10 May 2024Review(s) Completed, Editorial Evaluation Pending
14 May 2024Editorial Decision: Revise Major
14 Jun 2024Editorial Decision: Revise Minor
14 Jun 2024Submission Checks Completed
14 Jun 2024Assigned to Editor
17 Jun 2024Review(s) Completed, Editorial Evaluation Pending
17 Jun 2024Editorial Decision: Accept