Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report / 대한내과학회지
Korean Journal of Medicine
; : 521-525, 2013.
Article
de Ko
| WPRIM
| ID: wpr-144650
Bibliothèque 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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pronostic
/
Facteurs de risque
/
Neurofibromatose de type 1
/
Neurofibromatoses
/
Neurofibromine-1
/
Hypertension artérielle
/
Hypertension pulmonaire
/
Corée
/
Neurofibrome
Type d'étude:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limites du sujet:
Humans
Pays comme sujet:
Asia
langue:
Ko
Texte intégral:
Korean Journal of Medicine
Année:
2013
Type:
Article