Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation - PubMed (original) (raw)
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Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation
R Mariani et al. Gut. 2004 May.
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.
Figures
Figure 1
(A) Family pedigree. (B) Age, iron, and biochemical data of the proband and relatives. SQUID, superconductive quantum interference device.
Figure 2
(A) Urinary iron excretion (U- Fe) by deferiprone and deferoxamine. (B) Serum iron (s-Fe), serum ferritin (s- Ferr), haemoglobin (Hb), and mean corpuscular volume (MCV) during iron chelation therapy.
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