Case of presymptomatic aceruloplasminemia treated with deferasirox
Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35‐year‐old man who was diagnosed with aceruloplasminemi...
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| Published in | Hepatology research Vol. 44; no. 12; pp. 1253 - 1258 |
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| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Netherlands
01.11.2014
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| Abstract | Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35‐year‐old man who was diagnosed with aceruloplasminemia without neurological manifestation despite the accumulation of iron in the brain and liver. To prevent the development of neurodegenerative disorder related to iron toxicity, iron depletion therapy was performed. Iron chelator deferasirox was effective in reducing serum ferritin level and to prevent the progression of the disease. |
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| AbstractList | Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35‐year‐old man who was diagnosed with aceruloplasminemia without neurological manifestation despite the accumulation of iron in the brain and liver. To prevent the development of neurodegenerative disorder related to iron toxicity, iron depletion therapy was performed. Iron chelator deferasirox was effective in reducing serum ferritin level and to prevent the progression of the disease. |
| Author | Tai, Mayumi Kono, Satoshi Miyajima, Hiroaki Harada, Masaru Ichii, Osamu Matsuhashi, Nobuo Ejiri, Yutaka Terada, Tatsuhiro Suzuki, Tomohiro |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24341521$$D View this record in MEDLINE/PubMed |
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| Title | Case of presymptomatic aceruloplasminemia treated with deferasirox |
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