Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. Issue 5 (13th April 2004)

• Record Type: Journal Article
• Authors: Mariani, R; Arosio, C; Pelucchi, S; Grisoli, M; Piga, A; Trombini, P; Piperno, A
• Is Part Of: Gut. Volume 53:Issue 5(2004)
• Page Start: 756
• Page End: 758
• Publication Date: 2004-04-13
• Subjects: ceruloplasmin -- iron overload -- brain MRI -- SQUID; Cp, ceruloplasmin -- MRI, magnetic resonance imaging -- SQUID, superconductive quantum interference device -- RFLP, restricted fragment length polymorphism; Gastroenterology -- Periodicals; 616.33
• DOI: 10.1136/gut.2003.030429
• Languages: English
• ISSNs: 0017-5749

Abstract

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.