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.
References
Jun 1, 1987·AJR. American Journal of Roentgenology·B NewmanJ A Kirkpatrick
Apr 17, 2002·Lancet·Guido FitzeHans K Schackert
Feb 24, 2004·Journal of the American Society of Nephrology : JASN·Marie-Agnès Dragon-DureyLaurence Weiss
Apr 8, 2006·The EMBO Journal·T Sakari JokirantaAdrian Goldman
Nov 7, 2006·Molecular Immunology·Sara C NilssonAnna M Blom
Dec 18, 2009·Kidney International·Frank BienaimeVeronique Fremeaux-Bacchi
Jun 18, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Aoife M Waters, Christoph Licht
Jul 3, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Marina NorisGiuseppe Remuzzi
Mar 14, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Lianne M GeerdinkNicole C A J van de Kar
Jul 28, 2012·BMC Nephrology·Thomas IdornAnne-Lise Kamper
Apr 11, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Chantal LoiratUNKNOWN HUS International
Dec 19, 2016·Kidney International·Timothy H J GoodshipUNKNOWN Conference Participants
Mar 1, 2017·Lancet·Fadi FakhouriChantal Loirat
Jul 15, 2017·Pediatric Reports·Fadi IskandaraniAmir Khanafer
Jul 29, 2017·Kidney International·Vicky BrocklebankDavid Kavanagh
Mar 1, 2018·Seminars in Immunology·Christian SinaStefanie Derer
Jun 15, 2019·Clinical Kidney Journal·Christof AignerGere Sunder-Plassmann
Jul 18, 2019·Clinical Nephrology. Case Studies·H Stella ShinBradley P Dixon
Jan 1, 2020·BMC Genomics·Nirupama BenisDirkjan Schokker