Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia.

ABSTRACT:

Introduction

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1,000 patients in the US have a well-established diagnosis.

Areas covered

We provide an overview of the clinical manifestations of PCD, describe the evolution of diagnostic methods, and critique the literature on management of PCD.

Expert opinion

Although interest in clinical studies in non-CF bronchiectasis has increased in recent years, some of whom enroll patients with PCD, the literature regarding therapy for PCD as a distinct entity is lacking, as the numbers are small, and there have been no sub-analyses published. However, with improved screening an

SUBMITTER: Daniels ML 

PROVIDER: S-EPMC4794317 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature