Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
Rev. bras. hematol. hemoter
; Rev. bras. hematol. hemoter;33(5): 389-392, Oct. 2011. ilus, tab
Article
em En
| LILACS
| ID: lil-606717
Biblioteca responsável:
BR408.1
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Ceruloplasmina
/
Transtornos Cognitivos
/
Distúrbios do Metabolismo do Ferro
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article