title: Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation.
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.
authors.affiliation: 1Pediatric Heart Centre,Justus-Liebig-University,Giessen,Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Recla
authors.affiliation: 2Pediatric Neurology,Justus-Liebig-University,Giessen,Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
authors.affiliation: 1Pediatric Heart Centre,Justus-Liebig-University,Giessen,Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Apitz
mesh_terms: D002404:Catheterization; D002648:Child; D004452:Echocardiography; D019332:Endothelin-1 / Q000378:metabolism; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D016464:Lysosomal Storage Diseases; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D009081:Mucolipidoses / Q000150:complications*; D011651:Pulmonary Artery; D014421:Turkey
chemical_list: D019332:Endothelin-1
keywords: lysosomal storage disorder