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

We report a 51-year-old female who had a first episode of thrombocytopenia at 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21,000/ul was detected. She was treated with eltrombopag with a good response. The family his...

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Autores principales:	Conte,Guillermo, López,Miguel, Alarcón,Pablo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2018
Materias:	Genetic Diseases Inborn Thrombocytopenia Human Genetics
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901074
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spelling	oai:scielo:S0034-988720180009010742019-02-13Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínicoConte,GuillermoLópez,MiguelAlarcón,Pablo Genetic Diseases Inborn Thrombocytopenia Human Genetics We report a 51-year-old female who had a first episode of thrombocytopenia at 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21,000/ul was detected. She was treated with eltrombopag with a good response. The 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.146 n.9 20182018-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901074es10.4067/s0034-98872018000901074
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Genetic Diseases Inborn Thrombocytopenia Human Genetics
spellingShingle	Genetic Diseases Inborn Thrombocytopenia Human Genetics Conte,Guillermo López,Miguel Alarcón,Pablo Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico
description	We report a 51-year-old female who had a first episode of thrombocytopenia at 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21,000/ul was detected. She was treated with eltrombopag with a good response. The 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.
author	Conte,Guillermo López,Miguel Alarcón,Pablo
author_facet	Conte,Guillermo López,Miguel Alarcón,Pablo
author_sort	Conte,Guillermo
title	Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico
title_short	Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico
title_full	Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico
title_fullStr	Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico
title_full_unstemmed	Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico
title_sort	trombocitopenia hereditaria relacionada a gen myh-9: primera familia reportada en chile con diagnóstico molecular. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2018
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901074
work_keys_str_mv	AT conteguillermo trombocitopeniahereditariarelacionadaagenmyh9primerafamiliareportadaenchilecondiagnosticomolecularcasoclinico AT lopezmiguel trombocitopeniahereditariarelacionadaagenmyh9primerafamiliareportadaenchilecondiagnosticomolecularcasoclinico AT alarconpablo trombocitopeniahereditariarelacionadaagenmyh9primerafamiliareportadaenchilecondiagnosticomolecularcasoclinico
_version_	1718437025372176384

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

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