Trombocitopenia hereditaria relacionada a gen MYH-9: primera familia reportada en Chile con diagnóstico molecular: caso clínico / Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene: report of one case
Rev. méd. Chile
; 146(9): 1074-1078, set. 2018. tab, graf
Artigo
em Espanhol
| LILACS
| ID: biblio-978800
Biblioteca responsável:
CL1.1
ABSTRACT
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Trombocitopenia
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Fatores de risco
Limite:
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Universidad de Chile/CL