Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases

International Journal of Molecular Sciences

Federico Pieruzzi¹  Anna Stainer²  Paola Faverio²  Alberto Pesci²  Federica De Giacomi²  Anna Monzani²  Francesco Canonico³  Serena Motta⁴  Andrea Biondi⁴  Serena Gasperini⁴ 

[1] Department of Medicine and Surgery, Università degli Studi di Milano Bicocca, Nephrology Unit, San Gerardo Hospital, ASST di Monza, 20900 Monza, Italy;Department of Medicine and Surgery, Università degli Studi di Milano Bicocca, Respiratory Unit, San Gerardo Hospital, ASST di Monza, 20900 Monza, Italy;Department of Neuroradiology, Università degli Studi di Milano Bicocca, San Gerardo Hospital, ASST di Monza, 20900 Monza, Italy;Rare Metabolic Diseases Unit, Pediatric Department, Fondazione MBBM, Università degli Studi di Milano Bicocca, San Gerardo Hospital, ASST di Monza, 20900 Monza, Italy;

关键词: lysosomal storage diseases;    lung involvement;    mucopolysaccharidosis;    mucolipidoses;    Pompe disease;    Niemann-Pick disease;    Gaucher’s disease;    Fabry disease;   

DOI  :  10.3390/ijms20020327

来源: DOAJ

【 摘 要 】

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 failure in Pompe disease due to diaphragmatic and abdominal wall muscle weakness. In mucopolysaccharidosis and mucolipidoses, respiratory symptoms usually manifest early in life and are secondary to anatomical malformations, particularly of the trachea and chest wall, and to accumulation of glycosaminoglycans in the upper and lower airways, causing, for example, obstructive sleep apnea syndrome. Although the molecular pathways involved vary, ranging from lipid to glycogen and glycosaminoglycans accumulation, some clinical manifestations and therapeutic approaches are common among diseases, suggesting that lysosomal storage and subsequent cellular toxicity are the common endpoints.

【 授权许可】

Unknown