A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation / 대한내과학회지
Korean Journal of Medicine
;
: 238-242, 2012.
Artigo
em Coreano
| WPRIM
| ID: wpr-96836
ABSTRACT
Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon 8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Éxons
/
Proteínas Morfogenéticas Ósseas
/
Dispneia
/
Hemoptise
/
Hipertensão
/
Hipertensão Pulmonar
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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