Format

Send to:

Choose Destination
See comment in PubMed Commons below
Cardiol Young. 2015 Apr;25(4):773-6. doi: 10.1017/S1047951114000997. Epub 2014 Jun 9.

Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation.

Author information

  • 11Pediatric Heart Centre,Justus-Liebig-University,Giessen,Germany.
  • 22Pediatric Neurology,Justus-Liebig-University,Giessen,Germany.

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.

KEYWORDS:

lysosomal storage disorder

PMID:
24910177
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Cambridge University Press
    Loading ...
    Write to the Help Desk