Hematological findings in Noonan syndrome

Detalhes bibliográficos
Autor(a) principal: Bertola,Débora R.
Data de Publicação: 2003
Outros Autores: Carneiro,Jorge David A., D'Amico,Élbio Antônio, Kim,Chong A., Albano,Lilian Maria José, Sugayama,Sofia M.M., Gonzalez,Claudette H.
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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spelling 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
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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
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