Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

ABSTRACT: Lysosomal storage diseases (LSD) include a wide range of different disorders with variable degrees of respiratory system involvement. The purpose of this narrative review is to treat the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular pathways known so far to be involved in the pathogenesis of the disease. A literature search was conducted using the Medline/PubMed and EMBASE databases to identify studies, from 1968 through to November 2018, that investigated the respiratory manifestations and molecular pathways affected in LSD. Pulmonary involvement includes interstitial lung disease in Gaucher's disease and Niemann-Pick disease, obstructive airway disease in Fabry disease and ventilatory disorders with chronic respiratory fa

SUBMITTER: Faverio P 

PROVIDER: S-EPMC6359090 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature