Hematological findings in Noonan syndrome
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Revista do Hospital das Clínicas |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812003000100002 |
Resumo: | OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30%). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30% in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder. |
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Hematological findings in Noonan syndromeNoonan syndromeHematological findingsCoagulation-factor XI deficiencyOBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30%). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30% in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder.Faculdade de Medicina / Universidade de São Paulo - FM/USP2003-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812003000100002Revista do Hospital das Clínicas v.58 n.1 2003reponame:Revista do Hospital das Clínicasinstname:Universidade de São Paulo (USP)instacron:USP10.1590/S0041-87812003000100002info:eu-repo/semantics/openAccessBertola,Débora R.Carneiro,Jorge David A.D'Amico,Élbio AntônioKim,Chong A.Albano,Lilian Maria JoséSugayama,Sofia M.M.Gonzalez,Claudette H.eng2003-04-30T00:00:00Zoai:scielo:S0041-87812003000100002Revistahttp://www.scielo.br/rhcPUBhttps://old.scielo.br/oai/scielo-oai.php||revista.hc@hcnet.usp.br1678-99030041-8781opendoar:2003-04-30T00:00Revista do Hospital das Clínicas - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Hematological findings in Noonan syndrome |
title |
Hematological findings in Noonan syndrome |
spellingShingle |
Hematological findings in Noonan syndrome Bertola,Débora R. Noonan syndrome Hematological findings Coagulation-factor XI deficiency |
title_short |
Hematological findings in Noonan syndrome |
title_full |
Hematological findings in Noonan syndrome |
title_fullStr |
Hematological findings in Noonan syndrome |
title_full_unstemmed |
Hematological findings in Noonan syndrome |
title_sort |
Hematological findings in Noonan syndrome |
author |
Bertola,Débora R. |
author_facet |
Bertola,Débora R. Carneiro,Jorge David A. D'Amico,Élbio Antônio Kim,Chong A. Albano,Lilian Maria José Sugayama,Sofia M.M. Gonzalez,Claudette H. |
author_role |
author |
author2 |
Carneiro,Jorge David A. D'Amico,Élbio Antônio Kim,Chong A. Albano,Lilian Maria José Sugayama,Sofia M.M. Gonzalez,Claudette H. |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Bertola,Débora R. Carneiro,Jorge David A. D'Amico,Élbio Antônio Kim,Chong A. Albano,Lilian Maria José Sugayama,Sofia M.M. Gonzalez,Claudette H. |
dc.subject.por.fl_str_mv |
Noonan syndrome Hematological findings Coagulation-factor XI deficiency |
topic |
Noonan syndrome Hematological findings Coagulation-factor XI deficiency |
description |
OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30%). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30% in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder. |
publishDate |
2003 |
dc.date.none.fl_str_mv |
2003-01-01 |
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=S0041-87812003000100002 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812003000100002 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0041-87812003000100002 |
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 |
Faculdade de Medicina / Universidade de São Paulo - FM/USP |
publisher.none.fl_str_mv |
Faculdade de Medicina / Universidade de São Paulo - FM/USP |
dc.source.none.fl_str_mv |
Revista do Hospital das Clínicas v.58 n.1 2003 reponame:Revista do Hospital das Clínicas instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Revista do Hospital das Clínicas |
collection |
Revista do Hospital das Clínicas |
repository.name.fl_str_mv |
Revista do Hospital das Clínicas - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||revista.hc@hcnet.usp.br |
_version_ |
1754820894508711936 |