Journalartikel

Jahr der Veröffentlichung: 2015

Seiten: 773-776

Zeitschrift: Cardiology in the Young

Bandnummer: 25

Heftnummer: 4

ISSN: 1047-9511

eISSN: 1467-1107

DOI Link: https://doi.org/10.1017/S1047951114000997

Verlag: Cambridge University Press

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.

Harvard-Zitierstil: Recla, S., Hahn, A. and Apitz, C. (2015) Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation, Cardiology in the Young, 25(4), pp. 773-776. https://doi.org/10.1017/S1047951114000997

APA-Zitierstil: Recla, S., Hahn, A., & Apitz, C. (2015). Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation. Cardiology in the Young. 25(4), 773-776. https://doi.org/10.1017/S1047951114000997