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Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation
Author(s) -
Kos Renate,
Israëls Joël,
Gogh Christine D. L.,
Altenburg Josje,
Diepenhorst Sandra,
Paff Tamara,
Boon Elles M. J.,
Micha Dimitra,
Pals Gerard,
Neerincx Anne H.,
Maitlandvan der Zee Anke H.,
Haarman Eric G.
Publication year - 2022
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31968
Subject(s) - primary ciliary dyskinesia , medicine , mucociliary clearance , gastroenterology , confidence interval , situs inversus , lung , population , pediatrics , bronchiectasis , environmental health
Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear‐nose‐throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty‐three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV 1 declined in children (−1.43%/year, CI: −1.80/−1.05), but not in adults (0.01%/year, CI: −0.36/0.38). Pseudomonas aeruginosa was cultured in 21% of children and 60% of adults, respectively. Patients who have been infected at some point with P. aeruginosa had a steeper decline in FEV 1 as compared to patients that have never been infected. Neonatal symptoms (79%) and ENT problems (94%) were common; fertility issues however, were not (11%) common. Compared to other PCD cohorts, the Volendam/CCDC114 patients have a moderately severe phenotype with lung function decline predominantly occurring in childhood.