CareLit Fachartikel
Rapid chelation of hepatic iron with deferasirox in aceruloplasminemia due to a novel gene mutation
A Finkenstedt, E Wolf, W Poewe, W Vogel, AR Janecke, H Zoller · Zeitschrift für Gastroenterologie · 2010 · Heft 05
Dokument
1108202
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Jahr
2010
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Zusammenfassung
Background: Aceruloplasminemia (ACP) is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration and diabetes mellitus. Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin. Results: A novel homozygous ceruloplasmin gene mutation, c.2183+1G>T, was identified as the cause of ACP in three affected siblings. Two siblings presented with movement disorders and diabetes. Complementary DNA sequencing showed that this…
Schlagworte
Deferiprone
Deferasirox
Movement Disorders
Chelation Therapy
Ceruloplasmin
Movement
After
Diabetes Mellitus
Amino Acids
Anemia
Zeitschrift für Gastroenterologie
