TY - JOUR
T1 - Primary ciliary dyskinesia in Volendam
T2 - Diagnostic and phenotypic features in patients with a CCDC114 mutation
AU - Kos, Renate
AU - Israëls, Joël
AU - van Gogh, Christine D. L.
AU - Altenburg, Josje
AU - Diepenhorst, Sandra
AU - Paff, Tamara
AU - Amsterdam Mucociliary Clearance Disease (AMCD) research group
AU - Boon, Elles M. J.
AU - Micha, Dimitra
AU - Pals, Gerard
AU - Neerincx, Anne H.
AU - Maitland-van der Zee, Anke H.
AU - Haarman, Eric G.
N1 - Funding Information:
The authors would like to acknowledge all patients and parents for their interest in scientific research and for giving their consent. Furthermore, the authors would like to thank Jaap Schipper, Hans (JWM) Niessen, and Hedy Meijer for their help with the data collection, and Hans Gille for his contribution to the genotyping results.
Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.
PY - 2022/3/1
Y1 - 2022/3/1
N2 - 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. FEV1 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 FEV1 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.
AB - 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. FEV1 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 FEV1 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.
KW - CCDC114
KW - lung function
KW - phenotype
KW - primary ciliary dyskinesia
UR - http://www.scopus.com/inward/record.url?scp=85130635048&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.31968
DO - 10.1002/ajmg.c.31968
M3 - Article
C2 - 35343062
SN - 1552-4868
VL - 190
SP - 89
EP - 101
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 1
ER -