The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

ABSTRACT:

Background

Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population.

Methods

Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV₁) Global Lung Index z-scores and body mass index z-scores.

Results

68 individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14

SUBMITTER: Rumman N 

PROVIDER: S-EPMC10107064 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature