Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases.

Abstract

Aceruloplasminemia is a rare autosomal recessive disease in which a mutation leads to the absence or dysfunction of ceruloplasmin. Deficiency of this enzyme leads to the accumulation of iron in various organs; aceruloplasminemia is usually characterized by diabetes, retinal degeneration and neurological disorders. Diagnosis is suspected by the presence of elevated levels of ferritin, anemia, decreased serum copper and absence of ceruloplasmin in serum. Treatment of aceruloplasminemia is mainly based on the control of iron overload.

• Authors: Maria do Rosário Ferraz Roberti, Handel Meireles Borges Filho, Cláudio Humberto Gonçalves, Flávio Leão Lima
• Journal: Revista brasileira de hematologia e hemoterapia (Rev Bras Hematol Hemoter) Vol. 33 Issue 5 Pg. 389-92 ( 2011) ISSN: 1806-0870 [Electronic] Brazil
• PMID: 23049345 (Publication Type: Journal Article)