Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases

Detalhes bibliográficos
Autor(a) principal: Roberti,Maria do Rosário Ferraz
Data de Publicação: 2011
Outros Autores: Borges Filho,Handel Meireles, Gonçalves,Cláudio Humberto, Lima,Flávio Leão
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Revista brasileira de hematologia e hemoterapia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000500017
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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spelling Aceruloplasminemia: a rare disease - diagnosis and treatment of two casesCeruloplasmin/deficiencyCeruloplasmin/geneticsCognition disorders/etiologyIron metabolism disordersCase reportsAceruloplasminemia 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.Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular2011-10-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000500017Revista Brasileira de Hematologia e Hemoterapia v.33 n.5 2011reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.5581/1516-8484.20110104info:eu-repo/semantics/openAccessRoberti,Maria do Rosário FerrazBorges Filho,Handel MeirelesGonçalves,Cláudio HumbertoLima,Flávio Leãoeng2011-11-22T00:00:00Zoai:scielo:S1516-84842011000500017Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2011-11-22T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false
dc.title.none.fl_str_mv Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
title Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
spellingShingle Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
Roberti,Maria do Rosário Ferraz
Ceruloplasmin/deficiency
Ceruloplasmin/genetics
Cognition disorders/etiology
Iron metabolism disorders
Case reports
title_short Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
title_full Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
title_fullStr Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
title_full_unstemmed Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
title_sort Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases
author Roberti,Maria do Rosário Ferraz
author_facet Roberti,Maria do Rosário Ferraz
Borges Filho,Handel Meireles
Gonçalves,Cláudio Humberto
Lima,Flávio Leão
author_role author
author2 Borges Filho,Handel Meireles
Gonçalves,Cláudio Humberto
Lima,Flávio Leão
author2_role author
author
author
dc.contributor.author.fl_str_mv Roberti,Maria do Rosário Ferraz
Borges Filho,Handel Meireles
Gonçalves,Cláudio Humberto
Lima,Flávio Leão
dc.subject.por.fl_str_mv Ceruloplasmin/deficiency
Ceruloplasmin/genetics
Cognition disorders/etiology
Iron metabolism disorders
Case reports
topic Ceruloplasmin/deficiency
Ceruloplasmin/genetics
Cognition disorders/etiology
Iron metabolism disorders
Case reports
description 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.
publishDate 2011
dc.date.none.fl_str_mv 2011-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000500017
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000500017
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5581/1516-8484.20110104
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
dc.source.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia v.33 n.5 2011
reponame:Revista brasileira de hematologia e hemoterapia (Online)
instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
instname_str Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron_str ABHHTC
institution ABHHTC
reponame_str Revista brasileira de hematologia e hemoterapia (Online)
collection Revista brasileira de hematologia e hemoterapia (Online)
repository.name.fl_str_mv Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
repository.mail.fl_str_mv sbhh@terra.com.br||secretaria@rbhh.org
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