Gaucher's disease with myocardial involvement in pregnancy
Autor(a) principal: | |
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Data de Publicação: | 2002 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000300008 |
Resumo: | CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions. CASE REPORT: Two pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed. |
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São Paulo medical journal (Online) |
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Gaucher's disease with myocardial involvement in pregnancyGaucher's diseasePregnancyMyocardial involvementHeart failureCONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions. CASE REPORT: Two pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed.Associação Paulista de Medicina - APM2002-05-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000300008Sao Paulo Medical Journal v.120 n.3 2002reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802002000300008info:eu-repo/semantics/openAccessTorloni,Maria ReginaFranco,KátiaSass,Nelsoneng2002-07-22T00:00:00Zoai:scielo:S1516-31802002000300008Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2002-07-22T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Gaucher's disease with myocardial involvement in pregnancy |
title |
Gaucher's disease with myocardial involvement in pregnancy |
spellingShingle |
Gaucher's disease with myocardial involvement in pregnancy Torloni,Maria Regina Gaucher's disease Pregnancy Myocardial involvement Heart failure |
title_short |
Gaucher's disease with myocardial involvement in pregnancy |
title_full |
Gaucher's disease with myocardial involvement in pregnancy |
title_fullStr |
Gaucher's disease with myocardial involvement in pregnancy |
title_full_unstemmed |
Gaucher's disease with myocardial involvement in pregnancy |
title_sort |
Gaucher's disease with myocardial involvement in pregnancy |
author |
Torloni,Maria Regina |
author_facet |
Torloni,Maria Regina Franco,Kátia Sass,Nelson |
author_role |
author |
author2 |
Franco,Kátia Sass,Nelson |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Torloni,Maria Regina Franco,Kátia Sass,Nelson |
dc.subject.por.fl_str_mv |
Gaucher's disease Pregnancy Myocardial involvement Heart failure |
topic |
Gaucher's disease Pregnancy Myocardial involvement Heart failure |
description |
CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces a heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions. CASE REPORT: Two pregnancies of a patient with Gaucher's disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment. In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed. |
publishDate |
2002 |
dc.date.none.fl_str_mv |
2002-05-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000300008 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802002000300008 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1516-31802002000300008 |
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 Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.120 n.3 2002 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209260448776192 |