Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
Rev. bras. hematol. hemoter
; 33(5): 389-392, Oct. 2011. ilus, tab
Article
in En
| LILACS
| ID: lil-606717
Responsible library:
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.
Key words
Full text:
1
Index:
LILACS
Main subject:
Ceruloplasmin
/
Cognition Disorders
/
Iron Metabolism Disorders
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
Language:
En
Journal:
Rev. bras. hematol. hemoter
Journal subject:
HEMATOLOGIA
Year:
2011
Type:
Article