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 provide...

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Bibliographic Details
Published in:Journal of hepatology 2002-06, Vol.36 (6), p.851-856
Main Authors: Loréal, Olivier, Turlin, Bruno, Pigeon, Christelle, Moisan, Annick, Ropert, Martine, Morice, Patrick, Gandon, Yves, Jouanolle, Anne-Marie, Vérin, Marc, Hider, Robert C., Yoshida, Kunihiro, Brissot, Pierre
Format: Article
Language:English
Subjects:
Biological and medical sciences
Ceruloplasmin
Ceruloplasmin - genetics
Ceruloplasmin - metabolism
Deferoxamine
Deferoxamine - administration & dosage
Digestive system. Abdomen
Endoscopy
Female
Humans
Investigative techniques, diagnostic techniques (general aspects)
Iron Chelating Agents - administration & dosage
Iron chelation
Iron overload
Iron Overload - drug therapy
Iron Overload - genetics
Iron Overload - physiopathology
Liver
Liver - metabolism
Liver - pathology
Magnetic Resonance Imaging
Medical sciences
Middle Aged
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Summary: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.
ISSN:0168-8278
1600-0641
DOI:10.1016/S0168-8278(02)00042-9