Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report / 대한내과학회지
Korean Journal of Medicine
;
: 521-525, 2013.
Artigo
em Coreano
| WPRIM
| ID: wpr-144663
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Prognóstico
/
Fatores de Risco
/
Neurofibromatose 1
/
Neurofibromatoses
/
Neurofibromina 1
/
Hipertensão
/
Hipertensão Pulmonar
/
Coreia (Geográfico)
/
Neurofibroma
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
/
Fatores de risco
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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