Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease

Adi Nitzan-Luques, Mordechai Slae, Diaa Zugayar, Bradley P. Dixon, Karen Meir, Oded Volovelsky*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Neonatal thrombotic microangiopathy (TMA) is a rare and severe disease characterized by a triad of non-immune hemolytic anemia, thrombocytopenia, and organ dysfunction in neonates. We describe herein an early-term infant who underwent hemicolectomy at 4 days of age due to intestinal perforation. Following surgery, the patient had recurrent bouts of vomiting and abdominal distention, together with acute kidney injury, non-immune hemolytic anemia, and severe thrombocytopenia. Low complement levels raised the possibility of complement-mediated neonatal TMA. Finally, genetic tests identified a heterozygous mutation in the complement factor I gene. Anti-C5 monoclonal antibody therapy led to complete cessation of the hematological and renal manifestations, but symptoms of intestinal obstruction recurred. Intestinal biopsy demonstrated aganglionosis, compatible with Hirschsprung disease. This presentation is the first known case of neonatal complement-mediated TMA associated with Hirschsprung disease. Moreover, it highlights the importance of considering a diagnosis of TMA in cases of atypical neonatal infectious presentation.

Original languageEnglish
Pages (from-to)241-245
Number of pages5
JournalJournal of Nephrology
Volume34
Issue number1
DOIs
StatePublished - Feb 2021
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2020, Italian Society of Nephrology.

Keywords

  • Atypical hemolytic uremic syndrome
  • Complement
  • Factor I
  • Pediatric nephrology
  • Thrombotic microangiopathies

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