title: Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease.
abstract: Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild liver dysfunction. Liver biopsy showed the absence of iron overload but strong immunostaining of hepatocytes for the C5b-9 complex, the terminal complement cascade neoantigen occurring specifically during complement activation by the immunoglobulin G-mediated classic pathway, which established the alloimmune nature of the hepatocyte injury. The infant survived with no specific therapy, and follow-up until 36 months showed progressive normalization of all liver parameters. This case report expands the recognized clinical spectrum of congenital alloimmune liver disease to include neonatal liver disease and cirrhosis, even in the absence of siderosis. Such a diagnosis is of utmost importance regarding the necessity for immunotherapy in further pregnancies to avoid recurrence of alloimmune injury.
authors.affiliation: Department of Medical Genetics, CHU & University of Liège, Liège, Belgium. fg.debray@chu.ulg.ac.be
authors.forename: Francois-Guillaume
authors.initials: FG
authors.lastname: Debray
authors.forename: Virginie
authors.initials: V
authors.lastname: de Halleux
authors.forename: Ornella
authors.initials: O
authors.lastname: Guidi
authors.forename: Nancy
authors.initials: N
authors.lastname: Detrembleur
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Gaillez
authors.forename: Léon
authors.initials: L
authors.lastname: Rausin
authors.forename: Philippe
authors.initials: P
authors.lastname: Goyens
authors.forename: Xiaomin
authors.initials: X
authors.lastname: Pan
authors.forename: Peter F
authors.initials: PF
authors.lastname: Whitington
mesh_terms: D001327:Autoimmune Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006529:Hepatomegaly / Q000000981:diagnostic imaging / Q000196:embryology / Q000209:etiology*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008099:Liver / Q000378:metabolism / Q000473:pathology*; D008103:Liver Cirrhosis / Q000150:complications* / Q000175:diagnosis; D008107:Liver Diseases / Q000150:complications / Q000151:congenital / Q000276:immunology; D011247:Pregnancy; D011248:Pregnancy Complications; D016216:Ultrasonography, Prenatal
chemical_list: D007501:Iron