The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.

ABSTRACT: Primary ciliary dyskinesia and heterotaxy are rare but not mutually exclusive disorders, which result from cilia dysfunction. Heterotaxy occurs in at least 12.1% of primary ciliary dyskinesia patients, but the prevalence of primary ciliary dyskinesia within the heterotaxy population is unknown. We designed and distributed a web-based survey to members of an international heterotaxy organisation to determine the prevalence of respiratory features that are common in primary ciliary dyskinesia and that might suggest the possibility of primary ciliary dyskinesia. A total of 49 members (25%) responded, and 37% of the respondents have features suggesting the possibility of primary ciliary dyskinesia, defined as (1) the presence of at least two chronic respiratory symptoms, or (2) bronchiectasis

SUBMITTER: Shapiro AJ 

PROVIDER: S-EPMC4369774 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature