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HEREDITARY THROMBOCYTOPENIA ASSOCIATED WITH A MUTATION IN THE MYH-9 GENE. REPORT OF ONE CASE

Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso Clínico

dc.contributoren-US
dc.contributorNoes-ES
dc.creatorConte, Guillermo; Hospital Clínico Universidad de Chile
dc.creatorLópez, Miguel; Hospital de la Universidad de Chile
dc.creatorAlarcón, Pablo
dc.date2018-08-27
dc.date.accessioned2019-11-11T18:27:09Z
dc.date.available2019-11-11T18:27:09Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6544
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/110989
dc.descriptionWe report a 51 years old female who had a first episode of thrombocytopenia ad 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21000/ul was detected. She was treated with eltrombopag with a good response. A family history of the patient revealed the presence of thrombocytopenia in several family members. Suspecting a hereditary thrombocytopenia, a genetic study revealed a mutation in the MYH-9 gene. This mutation can be suspected when there is a family history of thrombocytopenia with autosomal dominant inheritance, macrothrombocytopenia and in this particular case, due to the response to thrombopoietin receptor agonist, eltrombopag.en-US
dc.descriptionWe report a 51 years old female who had a first episode of thrombocytopenia ad 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21000/ul was detected. She was treated with eltrombopag with a good response. A family history of the patient revealed the presence of thrombocytopenia in several family members. Suspecting a hereditary thrombocytopenia, a genetic study revealed a mutation in the MYH-9 gene. This mutation can be suspected when there is a family history of thrombocytopenia with autosomal dominant inheritance, macrothrombocytopenia and in this particular case, due to the response to thrombopoietin receptor agonist, eltrombopag.es-ES
dc.formatapplication/pdf
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6544/4330
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6544/33261
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6544/33891
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6544/36223
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6544/36224
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6544/36225
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6544/37553
dc.sourceRevista Médica de Chile; Vol. 146, núm. 9 (2018): SEPTIEMBRE 2018es-ES
dc.source0034-9887
dc.subjectEltrombopag; MYH9 protein, human; Thrombocytopeniaen-US
dc.subjectEltrombopag; MYH9 protein, human; Thrombocytopeniaes-ES
dc.titleHEREDITARY THROMBOCYTOPENIA ASSOCIATED WITH A MUTATION IN THE MYH-9 GENE. REPORT OF ONE CASEen-US
dc.titleTrombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso Clínicoes-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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