TY - JOUR
T1 - Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease
AU - Nitzan-Luques, Adi
AU - Slae, Mordechai
AU - Zugayar, Diaa
AU - Dixon, Bradley P.
AU - Meir, Karen
AU - Volovelsky, Oded
N1 - Publisher Copyright:
© 2020, Italian Society of Nephrology.
PY - 2021/2
Y1 - 2021/2
N2 - 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.
AB - 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.
KW - Atypical hemolytic uremic syndrome
KW - Complement
KW - Factor I
KW - Pediatric nephrology
KW - Thrombotic microangiopathies
UR - http://www.scopus.com/inward/record.url?scp=85086113676&partnerID=8YFLogxK
U2 - 10.1007/s40620-020-00766-5
DO - 10.1007/s40620-020-00766-5
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C2 - 32514992
AN - SCOPUS:85086113676
SN - 1121-8428
VL - 34
SP - 241
EP - 245
JO - Journal of Nephrology
JF - Journal of Nephrology
IS - 1
ER -