RESUMEN
Congenital amegakaryocytic thrombocytopenia is an uncommon disorder characterized by an isolated thrombocytopenia due to ineffective megakaryocytopoiesis at birth and the almost complete absence of megakaryocytes in the bone marrow. Mutations in the gene for the thrompoietin receptor MPL were defined as the molecular cause in congenital amegakaryocytic thrombocytopenia patients, developing into a pancytopenia during the first years of life. A case of congenital amegakaryocytic thrombocytopenia with no signs of pancytopenia at the age of 12 years is presented. Mutations were not found in the MPL gene.
Asunto(s)
Receptores de Trombopoyetina/genética , Trombocitopenia/congénito , Trombocitopenia/genética , Trombopoyesis/fisiología , Niño , Análisis Mutacional de ADN , Diagnóstico Diferencial , Humanos , Masculino , Biología Molecular/métodos , Pancitopenia/diagnóstico , Mutación Puntual/genética , Trombocitopenia/diagnósticoRESUMEN
La trombocitopenia congénita amegacariocítica es una rara enfermedad caracterizada por una trombocitopenia aislada, que tiene su origen en una deficiente megacariocitopoyesis desde el nacimiento, con disminución o ausencia de la presencia de megacariocitos en médula ósea. Mutaciones en el gen MPL, receptor para la trombopoyetina, son la causa molecular de la trombocitopenia congénita amegacariocítica, y dan origen al desarrollo de una pancitopenia en los primeros años de la vida. Se presenta un caso de trombocitopenia congénita amegacariocítica que no ha mostrado signos de pancitopenia a la edad de 12 años. No se hallaron mutaciones en el gen MPL (AU)
Congenital amegakaryocytic thrombocytopenia is an uncommon disorder characterized by an isolated thrombocytopenia due to ineffective megakaryocytopoiesis at birth and the almost complete absence of megakaryocytes in the bone marrow. Mutations in the gene for the thrompoietin receptor MPL were defined as the molecular cause in congenital amegakaryocytic thrombocytopenia patients, developing into a pancytopenia during the first years of life. A case of congenital amegakaryocytic thrombocytopenia with no signs of pancytopenia at the age of 12 years is presented. Mutations were not found in the MPL gene (AU)