We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxamine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.

Mariani, R., Arosio, C., Pelucchi, S., Grisoli, M., Piga, A., Trombini, P., et al. (2004). Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. GUT, 53(5), 756-758 [10.1136/gut.2003.030429].

Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation

MARIANI, RAFFAELLA;PELUCCHI, SARA;PIPERNO, ALBERTO
2004

Abstract

We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxamine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.
Articolo in rivista - Articolo scientifico
Aceruloplasminaemia, iron chelation, missense mutation
English
GUT
756
758
Mariani, R., Arosio, C., Pelucchi, S., Grisoli, M., Piga, A., Trombini, P., et al. (2004). Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. GUT, 53(5), 756-758 [10.1136/gut.2003.030429].
Mariani, R; Arosio, C; Pelucchi, S; Grisoli, M; Piga, A; Trombini, P; Piperno, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/4077
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