Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation.
Cardiol Young
; 25(4): 773-6, 2015 Apr.
Article
em En
| MEDLINE
| ID: mdl-24910177
ABSTRACT
We report on a boy with severe pulmonary arterial hypertension associated with mucolipidosis, a rare lysosomal storage disorder. During diagnostic catheterisation, we found increased endothelin-1 levels, but normal big endothelin-1-levels (the precursor form of endothelin-1), which suggests impaired degradation of endothelin-1 rather than increased synthesis. As endothelin-1 degradation takes place in the lysosome, it appears likely that lysosomal dysfunction caused by the underlying disease contributes to the development of pulmonary arterial hypertension in this patient.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipertensão Pulmonar
/
Mucolipidoses
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Cardiol Young
Assunto da revista:
ANGIOLOGIA
/
CARDIOLOGIA
/
PEDIATRIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Alemanha