Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report / 대한내과학회지
Korean Journal of Medicine
; : 521-525, 2013.
Artículo
en Coreano
| WPRIM (Pacífico Occidental)
| ID: wpr-144663
Biblioteca responsable:
WPRO
ABSTRACT
Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including cafe au lait macules, freckling in the axillary or inguinal regions, neurofibromas, and Lisch nodules (iris harmartomas), it can affect all physiological systems in the body [1]. Neurofibromatosis-related pulmonary hypertension has also been reported, and some patients showed a poor prognosis despite having received proper medical treatment [2-4]. We herein describe a case of pulmonary hypertension in a patient with neurofibromatosis type I who had no identified risk factors of pulmonary hypertension. To our knowledge, this is the first such report in Korea.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Pronóstico
/
Factores de Riesgo
/
Neurofibromatosis 1
/
Neurofibromatosis
/
Neurofibromina 1
/
Hipertensión
/
Hipertensión Pulmonar
/
Corea (Geográfico)
/
Neurofibroma
Tipo de estudio:
Estudio de etiología
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2013
Tipo del documento:
Artículo