Author:
Recla Sabine,Hahn Andreas,Apitz Christian
Abstract
AbstractWe 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.
Publisher
Cambridge University Press (CUP)
Subject
Cardiology and Cardiovascular Medicine,General Medicine,Pediatrics, Perinatology and Child Health
Cited by
1 articles.
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