title: Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses.
abstract: OBJECTIVE
  This study aimed to: assess the mucosal alterations of the larynx and hypopharynx typical for mucopolysaccharidoses, in a standardised manner; compare the severity in different subtypes of mucopolysaccharidoses; and monitor the effect of an enzyme replacement therapy.
  
  
  METHODS
  A classification for mucosal alterations of the larynx and hypopharynx was developed and utilised in 55 patients with mucopolysaccharidoses. Fifteen patients who started treatment with enzyme replacement therapy were followed longitudinally.
  
  
  RESULTS
  The most severe alterations were seen in the posterior region of the larynx and the arytenoids, and in the region of the false vocal folds. The alterations were most severe in patients with mucopolysaccharidosis II. No clear trend was observed in the patients who received enzyme replacement therapy.
  
  
  CONCLUSIONS
  Quantification of mucosal alterations of the hypopharynx and larynx in mucopolysaccharidoses patients can provide information about the disease's natural process and about the efficacy of enzyme replacement therapy.
authors.affiliation: Voice Care Center,Bad Rappenau,Germany.
authors.forename: A
authors.initials: A
authors.lastname: Keilmann
authors.affiliation: Division of Communication Disorders,Department of ORL,University Medical Center,Mainz,Germany.
authors.forename: F
authors.initials: F
authors.lastname: Bendel
authors.affiliation: Division of Communication Disorders,Department of ORL,University Medical Center,Mainz,Germany.
authors.forename: S
authors.initials: S
authors.lastname: Nospes
authors.affiliation: Center for Rare Diseases,Department of Child and Adolescent Medicine,Horst Schmidt Klinik,Wiesbaden,Germany.
authors.forename: C
authors.initials: C
authors.lastname: Lampe
authors.affiliation: Division of Communication Disorders,Department of ORL,University Medical Center,Mainz,Germany.
authors.forename: A K
authors.initials: AK
authors.lastname: Läßig
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004724:Endoscopy; D056947:Enzyme Replacement Therapy; D005260:Female; D006801:Humans; D007013:Hypopharynx / Q000473:pathology*; D007830:Larynx / Q000473:pathology*; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000145:classification / Q000188:drug therapy / Q000473:pathology*; D020545:Respiratory Mucosa / Q000473:pathology*; D055815:Young Adult
keywords: Airway Obstruction; Hypopharynx; Larynx; Mucopolysaccharidoses