title: Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights.
abstract: Aceruloplasminemia is an autosomal recessive disease of iron overload associated with mutation(s) in the ceruloplasmin gene. We report here a new case of aceruloplasminemia in a woman who is a compound heterozygote for two new mutations. Besides this novel genotypic profile, this observation provides new insights on: (i) iron metabolism with normal erythroid repartition, in the absence of serum non-transferrin-bound iron and with an increase of 59Fe plasma clearance; (ii) hepatic abnormalities associated with the presence of iron-free foci; (iii) the therapeutic management of the disease, chronic subcutaneous infusion of deferrioxamine being remarkably effective at reducing hepatic iron overload.
authors.affiliation: Unité de Recherches Hépatologiques, INSERM U522, Hôpital Pontchaillou, 35033, Rennes, France. olivier.loreal@rennes.inserm.fr
authors.forename: Olivier
authors.initials: O
authors.lastname: Loréal
authors.forename: Bruno
authors.initials: B
authors.lastname: Turlin
authors.forename: Christelle
authors.initials: C
authors.lastname: Pigeon
authors.forename: Annick
authors.initials: A
authors.lastname: Moisan
authors.forename: Martine
authors.initials: M
authors.lastname: Ropert
authors.forename: Patrick
authors.initials: P
authors.lastname: Morice
authors.forename: Yves
authors.initials: Y
authors.lastname: Gandon
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Jouanolle
authors.forename: Marc
authors.initials: M
authors.lastname: Vérin
authors.forename: Robert C
authors.initials: RC
authors.lastname: Hider
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.forename: Pierre
authors.initials: P
authors.lastname: Brissot
mesh_terms: D002570:Ceruloplasmin / Q000235:genetics* / Q000378:metabolism*; D003676:Deferoxamine / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007502:Iron Chelating Agents / Q000008:administration & dosage; D019190:Iron Overload / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged
chemical_list: D007502:Iron Chelating Agents; D002570:Ceruloplasmin; D003676:Deferoxamine