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Giant platelet syndrome / 소아과
Korean Journal of Pediatrics ; : 833-838, 2006.
Artigo em Coreano | WPRIM | ID: wpr-47623
ABSTRACT
Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the molecular level. Abnormalities in transcription factors are implicated in a couple of macrothrombocytopenia syndromes. However, the molecular defects are unknown in gray platelet syndrome. It is important to make a proper diagnosis of congenital macrothrombocytopenia to avoid unnecessary medications and potentially dangerous treatment for presumed ITP.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Trombocitopenia / Fatores de Transcrição / Plaquetas / Síndrome de Bernard-Soulier / Diagnóstico / Síndrome da Plaqueta Cinza Tipo de estudo: Estudo diagnóstico Idioma: Coreano Revista: Korean Journal of Pediatrics Ano de publicação: 2006 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Trombocitopenia / Fatores de Transcrição / Plaquetas / Síndrome de Bernard-Soulier / Diagnóstico / Síndrome da Plaqueta Cinza Tipo de estudo: Estudo diagnóstico Idioma: Coreano Revista: Korean Journal of Pediatrics Ano de publicação: 2006 Tipo de documento: Artigo