Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum among populations worldwide. Few cases of pediatric PCD have been reported from China.

Research question

What are the clinical and genotypic characteristics of children with PCD in China?

Study design and methods

Clinical characteristics, laboratory findings, and genetic results obtained for 75 patients with PCD were reviewed retrospectively at a single center in China. Genetic sequencing was conducted using whole-exome screening.

Results

Patient median age at diagnosis was 7.0 years (range, 2 months-14 years). Of 75 patients, 88% (66/75) had chronic wet cough, 77% (58/75) had recurrent sinusitis, 76% (57/75) had bronchiectasis, 40% (30/75) had ne

SUBMITTER: Guan Y 

PROVIDER: S-EPMC8129725 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature