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Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis

Dubruc, E; Nadaud, B; Ruchelli, E; Heissat, S; Baruteau, J; Broue, P; Debray, D; ... Collardeau-Frachon, S; + view all (2017) Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. Pediatric Research , 81 (5) pp. 712-721. 10.1038/pr.2017.8. Green open access

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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.

Type: Article
Title: Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/pr.2017.8
Publisher version: https://doi.org/10.1038/pr.2017.8
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: neonatal haemochromatosis, iron storage disorder, dysimmunity, allo-immunization, auto-antibodies, auto-immune diseases
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10081462
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