Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease.
J Nephrol
; 34(1): 241-245, 2021 02.
Article
in En
| MEDLINE
| ID: mdl-32514992
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thrombotic Microangiopathies
/
Atypical Hemolytic Uremic Syndrome
/
Hirschsprung Disease
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Humans
/
Infant
/
Newborn
Language:
En
Journal:
J Nephrol
Journal subject:
NEFROLOGIA
Year:
2021
Document type:
Article
Affiliation country:
Israel