Genetics in heritable pulmonary arterial hypertension / 대한내과학회지
Korean Journal of Medicine
;
: 20-27, 2010.
Artículo
en Coreano
| WPRIM
| ID: wpr-179463
ABSTRACT
Pulmonary arterial hypertension is caused by vascular remodeling including muscularization of arteries, loss of small precapillary arteries, and formation of neointima and plexiform lesion, resulting in a progressive increase in pulmonary vascular resistance. About 70% of heritable pulmonary arterial hypertension and 10% to 40% of idiopathic pulmonary arterial hypertension patients possess mutations in bone morphogenetic protein receptor, type 2 (BMPR2), which is a type II receptor of TGF-beta superfamily. Very rarely, mutations in another receptors of TGF-beta superfamily, activin-like kinase-type 1 (ALK1) and endoglin (ENG) are found in pulmonary arterial hypertension patients with hereditary hemorrhagic telangiectasia. Genetic screening is useful to identify family members who are mutation carriers in heritable pulmonary arterial hypertension families.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Arterias
/
Telangiectasia Hemorrágica Hereditaria
/
Resistencia Vascular
/
Pruebas Genéticas
/
Factor de Crecimiento Transformador beta
/
Proteínas Morfogenéticas Óseas
/
Receptores de Proteínas Morfogenéticas Óseas de Tipo II
/
Neointima
/
Hipertensión
/
Hipertensión Pulmonar
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2010
Tipo del documento:
Artículo
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