Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I
J. inborn errors metab. screen
; 5: e160060, 2017. tab
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090922
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GSDI, which was successfully treated with inhaled nitric oxide and sildenafil. We investigated the incidence of PAH in 28 patients with GSDI on routine echocardiography and found no evidence of PAH and no significant cardiac abnormalities. This study highlights that PAH is a rare disease overall, but our case report and those previously described suggest an increased incidence in patients with GSDI. Should cardiopulmonary symptoms develop, clinicians caring for patients with GSDI should have a high degree of suspicion for acute PAH and recognize that prompt intervention can lead to survival in this otherwise highly fatal disease.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Estados Unidos
Instituição/País de afiliação:
Children's Hospital of Orange County/US
/
Duke University Medical Center/US