title: Respiratory and sleep disorders in mucopolysaccharidosis.
abstract: MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can lead to the progressive development of a variety of clinical manifestations. Ear, nose, throat (ENT) and respiratory problems are very common in patients with MPS and are often among the first symptoms to appear. Typical features of MPS include upper and lower airway obstruction and restrictive pulmonary disease, which can lead to chronic rhinosinusitis or chronic ear infections, recurrent upper and lower respiratory tract infections, obstructive sleep apnoea, impaired exercise tolerance, and respiratory failure. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management.
authors.affiliation: Department Medicine, Physiology and Neuroscience, André Cournand Pulmonary Physiology Laboratory, Bellevue Hospital, New York University School of Medicine, New York, NY, USA. Kenneth.Berger@nyumc.org
authors.forename: Kenneth I
authors.initials: KI
authors.lastname: Berger
authors.forename: Simone C
authors.initials: SC
authors.lastname: Fagondes
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Karen A
authors.initials: KA
authors.lastname: Hardy
authors.forename: Kuo Sheng
authors.initials: KS
authors.lastname: Lee
authors.forename: Ciarán
authors.initials: C
authors.lastname: McArdle
authors.forename: Maurizio
authors.initials: M
authors.lastname: Scarpa
authors.forename: Martin J
authors.initials: MJ
authors.lastname: Tobin
authors.forename: Susan A
authors.initials: SA
authors.lastname: Ward
authors.forename: David M
authors.initials: DM
authors.lastname: Rapoport
mesh_terms: D000402:Airway Obstruction / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000503:physiopathology*; D012137:Respiratory System / Q000503:physiopathology*; D012893:Sleep Wake Disorders / Q000209:etiology* / Q000503:physiopathology