Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
AUTOR(ES)
Roberti, Maria do Rosário Ferraz, Borges Filho, Handel Meireles, Gonçalves, Cláudio Humberto, Lima, Flávio Leão
FONTE
Revista Brasileira de Hematologia e Hemoterapia
DATA DE PUBLICAÇÃO
2011-10
RESUMO
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.
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