Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.

ABSTRACT:

Objective

Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagnosis and initiation of treatment, we characterized the extent of airway-related symptoms and surgeries among patients with MPS I.

Methods

Analysis of the frequency of airway-related symptoms and surgeries from 1041 patients enrolled in the MPS I Registry and correlation with other systemic manifestations of MPS I.

Results

Airway-related symptoms (macroglossia, enlarged tonsils, reactive airway disease/asthma, or sleep disturbances) were reported for as many as 85% of Hurler,

SUBMITTER: Arn P 

PROVIDER: S-EPMC4361463 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature