A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation / 대한내과학회지
Korean Journal of Medicine
; : 238-242, 2012.
Article
en Ko
| WPRIM
| ID: wpr-96836
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Exones
/
Proteínas Morfogenéticas Óseas
/
Disnea
/
Hemoptisis
/
Hipertensión
/
Hipertensión Pulmonar
Límite:
Adult
/
Humans
/
Male
Idioma:
Ko
Revista:
Korean Journal of Medicine
Año:
2012
Tipo del documento:
Article