Questionnaire-assessed genotypes and associations with symptoms in primary ciliary dyskinesia

Eva S L Pedersen; Myrofora Goutaki; Leonie D Schreck; Bernhard Rindlisbacher; Lucy Dixon; Jane S Lucas; Claudia E Kuehni; COVID-PCD patient advisory group

doi:10.1183/23120541.00288-2024

Questionnaire-assessed genotypes and associations with symptoms in primary ciliary dyskinesia

ERJ Open Res. 2024 Oct 28;10(5):00288-2024. doi: 10.1183/23120541.00288-2024. eCollection 2024 Sep.

Authors

Eva S L Pedersen^{1

2}, Myrofora Goutaki^{1

3}, Leonie D Schreck^{1

4}, Bernhard Rindlisbacher⁵, Lucy Dixon⁶, Jane S Lucas^{7

8}, Claudia E Kuehni^{1

3}; COVID-PCD patient advisory group

Affiliations

¹ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
² Department of Clinical Research, University of Bern, Bern, Switzerland.
³ Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, University Hospital, University of Bern, Bern, Switzerland.
⁴ Graduate School for Health Sciences, University of Bern, Bern, Switzerland.
⁵ Selbsthilfegruppe Primäre Ciliäre Dyskinesie, Steffisburg, Switzerland.
⁶ PCD Support UK, Buckingham, UK.
⁷ Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁸ University of Southampton Faculty of Medicine, School of Clinical and Experimental Medicine, Southampton, UK.

Abstract

Collecting genetic information by questionnaire from people with PCD is feasible. This study confirmed typical differences in laterality defects and age at diagnosis between genotypes but found that symptoms were equally common across genotypes. https://bit.ly/4bvKW4R.