Details

Autor(en) / Beteiligte

• Berger, Kenneth I.
• Fagondes, Simone C.
• Giugliani, Roberto
• Hardy, Karen A.
• Lee, Kuo Sheng
• McArdle, Ciarán
• Scarpa, Maurizio
• Tobin, Martin J.
• Ward, Susan A.
• Rapoport, David M.

Titel

Respiratory and sleep disorders in mucopolysaccharidosis

Ist Teil von

• Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.201-210

Ort / Verlag

Dordrecht: Springer Netherlands

Erscheinungsjahr

2013

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.