Gaucher's disease in a patient presenting with hip and abdominal pain

Detalhes bibliográficos
Autor(a) principal: Resorlu,Mustafa
Data de Publicação: 2017
Outros Autores: Aylanc,Nilufer, Karatag,Ozan, Toprak,Canan Akgun
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Revista da Associação Médica Brasileira (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302017001201025
Resumo: Summary Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy. Support therapy is added in patients developing infection, anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction, splenic nodules and femur fracture determined at radiological imaging in a patient under monitoring due to Gaucher's disease.
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spelling Gaucher's disease in a patient presenting with hip and abdominal painGaucher's diseasetomographysphingolipidosesSummary Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy. Support therapy is added in patients developing infection, anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction, splenic nodules and femur fracture determined at radiological imaging in a patient under monitoring due to Gaucher's disease.Associação Médica Brasileira2017-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302017001201025Revista da Associação Médica Brasileira v.63 n.12 2017reponame:Revista da Associação Médica Brasileira (Online)instname:Associação Médica Brasileira (AMB)instacron:AMB10.1590/1806-9282.63.12.1025info:eu-repo/semantics/openAccessResorlu,MustafaAylanc,NiluferKaratag,OzanToprak,Canan Akguneng2018-02-21T00:00:00Zoai:scielo:S0104-42302017001201025Revistahttps://ramb.amb.org.br/ultimas-edicoes/#https://old.scielo.br/oai/scielo-oai.php||ramb@amb.org.br1806-92820104-4230opendoar:2018-02-21T00:00Revista da Associação Médica Brasileira (Online) - Associação Médica Brasileira (AMB)false
dc.title.none.fl_str_mv Gaucher's disease in a patient presenting with hip and abdominal pain
title Gaucher's disease in a patient presenting with hip and abdominal pain
spellingShingle Gaucher's disease in a patient presenting with hip and abdominal pain
Resorlu,Mustafa
Gaucher's disease
tomography
sphingolipidoses
title_short Gaucher's disease in a patient presenting with hip and abdominal pain
title_full Gaucher's disease in a patient presenting with hip and abdominal pain
title_fullStr Gaucher's disease in a patient presenting with hip and abdominal pain
title_full_unstemmed Gaucher's disease in a patient presenting with hip and abdominal pain
title_sort Gaucher's disease in a patient presenting with hip and abdominal pain
author Resorlu,Mustafa
author_facet Resorlu,Mustafa
Aylanc,Nilufer
Karatag,Ozan
Toprak,Canan Akgun
author_role author
author2 Aylanc,Nilufer
Karatag,Ozan
Toprak,Canan Akgun
author2_role author
author
author
dc.contributor.author.fl_str_mv Resorlu,Mustafa
Aylanc,Nilufer
Karatag,Ozan
Toprak,Canan Akgun
dc.subject.por.fl_str_mv Gaucher's disease
tomography
sphingolipidoses
topic Gaucher's disease
tomography
sphingolipidoses
description Summary Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy. Support therapy is added in patients developing infection, anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction, splenic nodules and femur fracture determined at radiological imaging in a patient under monitoring due to Gaucher's disease.
publishDate 2017
dc.date.none.fl_str_mv 2017-12-01
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=S0104-42302017001201025
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302017001201025
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1806-9282.63.12.1025
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 Médica Brasileira
publisher.none.fl_str_mv Associação Médica Brasileira
dc.source.none.fl_str_mv Revista da Associação Médica Brasileira v.63 n.12 2017
reponame:Revista da Associação Médica Brasileira (Online)
instname:Associação Médica Brasileira (AMB)
instacron:AMB
instname_str Associação Médica Brasileira (AMB)
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institution AMB
reponame_str Revista da Associação Médica Brasileira (Online)
collection Revista da Associação Médica Brasileira (Online)
repository.name.fl_str_mv Revista da Associação Médica Brasileira (Online) - Associação Médica Brasileira (AMB)
repository.mail.fl_str_mv ||ramb@amb.org.br
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