Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
Rev. bras. hematol. hemoter
;
33(5): 389-392, Oct. 2011. ilus, tab
Article
in English
| LILACS
| ID: lil-606717
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Ceruloplasmin
/
Cognition Disorders
/
Iron Metabolism Disorders
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
English
Journal:
Rev. bras. hematol. hemoter
Journal subject:
Hematology
Year:
2011
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal de Goiás/BR
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