Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/158278 |
Resumo: | Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting which patients with Fabry disease may develop thrombotic events, this study aimed to determine whether there is a hereditary predisposition to hypercoagulation in these patients. Methods: The prevalence of p.R506Q mutation in the factor V gene and of c.G20210A mutation in Factor II (prothrombin) gene was evaluated in 39 patients with Fabry disease from Southern Brazil and correlated with clinical findings. The DNA analysis was performed by real-time polymerase chain reaction on genomic DNA using TaqMan probes. Results: In this group of patients, the frequency of mutation in the prothrombin gene was 1.28%, whereas no patient showed mutation in the factor V gene; additionally, there was no correlation between these mutations and the incidence of thrombotic events. Conclusion: Hereditary thrombophilia due to mutations in factor V and prothrombin genes does not seem to be related to thrombotic events in Fabry patients in our cohort, although studies in larger cohorts and the inclusion of additional factors may be required to determine if a correlation exists. |
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Dick, JéssicaLeistner-Segal, SandraVairo, Filippo Pinto eGiugliani, RobertoSchwartz, Ida Vanessa Doederlein2017-05-20T02:42:56Z20162357-9730http://hdl.handle.net/10183/158278001001996Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting which patients with Fabry disease may develop thrombotic events, this study aimed to determine whether there is a hereditary predisposition to hypercoagulation in these patients. Methods: The prevalence of p.R506Q mutation in the factor V gene and of c.G20210A mutation in Factor II (prothrombin) gene was evaluated in 39 patients with Fabry disease from Southern Brazil and correlated with clinical findings. The DNA analysis was performed by real-time polymerase chain reaction on genomic DNA using TaqMan probes. Results: In this group of patients, the frequency of mutation in the prothrombin gene was 1.28%, whereas no patient showed mutation in the factor V gene; additionally, there was no correlation between these mutations and the incidence of thrombotic events. Conclusion: Hereditary thrombophilia due to mutations in factor V and prothrombin genes does not seem to be related to thrombotic events in Fabry patients in our cohort, although studies in larger cohorts and the inclusion of additional factors may be required to determine if a correlation exists.application/pdfengClinical and Biomedical Research. Vol. 36, no. 1 (2016), p. 23-26Doença de FabryTromboembolia venosaAcidente vascular cerebralFabry diseasers1799963rs6025StrokeThrombotic eventReal-time PCRPrevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazilinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL001001996.pdf001001996.pdfTexto completo (inglês)application/pdf692517http://www.lume.ufrgs.br/bitstream/10183/158278/1/001001996.pdfcbed57380f10e14aa22aaf6147e3a4faMD51TEXT001001996.pdf.txt001001996.pdf.txtExtracted Texttext/plain17304http://www.lume.ufrgs.br/bitstream/10183/158278/2/001001996.pdf.txt66ae635528a8c93b1341ca47ecf67bc3MD52THUMBNAIL001001996.pdf.jpg001001996.pdf.jpgGenerated Thumbnailimage/jpeg1889http://www.lume.ufrgs.br/bitstream/10183/158278/3/001001996.pdf.jpg48cd9b859048461781ab48313eafbf51MD5310183/1582782018-10-30 08:12:30.903oai:www.lume.ufrgs.br:10183/158278Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2018-10-30T11:12:30Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
title |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
spellingShingle |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil Dick, Jéssica Doença de Fabry Tromboembolia venosa Acidente vascular cerebral Fabry disease rs1799963 rs6025 Stroke Thrombotic event Real-time PCR |
title_short |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
title_full |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
title_fullStr |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
title_full_unstemmed |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
title_sort |
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil |
author |
Dick, Jéssica |
author_facet |
Dick, Jéssica Leistner-Segal, Sandra Vairo, Filippo Pinto e Giugliani, Roberto Schwartz, Ida Vanessa Doederlein |
author_role |
author |
author2 |
Leistner-Segal, Sandra Vairo, Filippo Pinto e Giugliani, Roberto Schwartz, Ida Vanessa Doederlein |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Dick, Jéssica Leistner-Segal, Sandra Vairo, Filippo Pinto e Giugliani, Roberto Schwartz, Ida Vanessa Doederlein |
dc.subject.por.fl_str_mv |
Doença de Fabry Tromboembolia venosa Acidente vascular cerebral |
topic |
Doença de Fabry Tromboembolia venosa Acidente vascular cerebral Fabry disease rs1799963 rs6025 Stroke Thrombotic event Real-time PCR |
dc.subject.eng.fl_str_mv |
Fabry disease rs1799963 rs6025 Stroke Thrombotic event Real-time PCR |
description |
Introduction: Venous thromboembolism (VTE) is a multifactorial genetic disorder that occurs in approximately one in a thousand adults per year. Because there is no laboratory test or clinical marker useful for predicting which patients with Fabry disease may develop thrombotic events, this study aimed to determine whether there is a hereditary predisposition to hypercoagulation in these patients. Methods: The prevalence of p.R506Q mutation in the factor V gene and of c.G20210A mutation in Factor II (prothrombin) gene was evaluated in 39 patients with Fabry disease from Southern Brazil and correlated with clinical findings. The DNA analysis was performed by real-time polymerase chain reaction on genomic DNA using TaqMan probes. Results: In this group of patients, the frequency of mutation in the prothrombin gene was 1.28%, whereas no patient showed mutation in the factor V gene; additionally, there was no correlation between these mutations and the incidence of thrombotic events. Conclusion: Hereditary thrombophilia due to mutations in factor V and prothrombin genes does not seem to be related to thrombotic events in Fabry patients in our cohort, although studies in larger cohorts and the inclusion of additional factors may be required to determine if a correlation exists. |
publishDate |
2016 |
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2016 |
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2017-05-20T02:42:56Z |
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http://hdl.handle.net/10183/158278 |
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2357-9730 |
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001001996 |
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2357-9730 001001996 |
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eng |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Clinical and Biomedical Research. Vol. 36, no. 1 (2016), p. 23-26 |
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openAccess |
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