Abstract
Background:
Neonatal hemochromatosis caused by a gestational alloimmune mechanism or gestational alloimmune liver disease (GALD) is a rare perinatal disorder characterized by intra- and extrahepatic iron overload. It is believed to result from complement-mediated liver injury, in which the classical complement pathway is activated by maternal antibody/fetal antigen complexes, leading to hepatocyte lysis by the membrane attack complex C5b9. According to some authors, C5b9 expression in more than 75% of liver parenchyma is specific for GALD.
Methods:
We conducted a retrospective multicentric immunohistochemical study with anti-C5b9 in GALD cases (n = 25) and non-GALD cases with iron overload (n = 36) and without iron overload (n = 18).
Results:
C5b9 was expressed in 100% of GALD cases but involved more than 75% of the liver parenchyma in only 26% of the cases. C5b9 was detected in 26.75% of the non-GALD cases with more than 75% of positive parenchyma in maternal erythrocytic alloimmunization, herpes and enterovirus hepatitis, bile acid synthetic defect, DGUOK mutation, Gaucher disease, cystic fibrosis, and giant-cell hepatitis with autoimmune hemolytic anemia.
Conclusion:
Diagnosis and therapeutic management of GALD cannot only be based on C5b9 expression in liver samples as it is not specific of this disease.
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Acknowledgements
The authors would particularly like to thank the members of the French society of fetal pathology (SOFFOET) who provided several cases included in this series, Arlette Loiseau and Dominique Boucharny who carried out the immunotechnique and all technicians of our department who realized staining and slide sections.
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Dubruc, E., Nadaud, B., Ruchelli, E. et al. Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. Pediatr Res 81, 712–721 (2017). https://doi.org/10.1038/pr.2017.8
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DOI: https://doi.org/10.1038/pr.2017.8
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