Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights.
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.
Loréal
Olivier
O
Unité de Recherches Hépatologiques, INSERM U522, Hôpital Pontchaillou, 35033, Rennes, France. olivier.loreal@rennes.inserm.fr
Turlin
Bruno
B
Pigeon
Christelle
C
Moisan
Annick
A
Ropert
Martine
M
Morice
Patrick
P
Gandon
Yves
Y
Jouanolle
Anne-Marie
AM
Vérin
Marc
M
Hider
Robert C
RC
Yoshida
Kunihiro
K
Brissot
Pierre
P
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
D007502:Iron Chelating Agents; D002570:Ceruloplasmin; D003676:Deferoxamine