Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
Rev. bras. hematol. hemoter
; 33(5): 389-392, Oct. 2011. ilus, tab
Article
en En
| LILACS
| ID: lil-606717
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Ceruloplasmina
/
Trastornos del Conocimiento
/
Trastornos del Metabolismo del Hierro
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
Rev. bras. hematol. hemoter
Asunto de la revista:
HEMATOLOGIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Brasil