Focus area: Physicians
Does a correlation exist between ultrastructural ciliary/genotype defects and lung function in young primary ciliary dyskinesia (PCD) patients?
A 5 years-longitudinal, multicenter, observational study recently described an interesting correlation in PCD patients.
We poorly know factors leading to primary ciliary dyskinesia (PCD) heterogeneity. Some American authors carried out an interesting longitudinal study to describe decline of lung function in PCD and identify associations between ultrastructural ciliary defects or genotypes and clinical phenotype (percent predicted FEV1, weight and height z-scores).
All 137 included patients were < 19 years old at enrollment, underwent > 2 annual study visits. The group with absent inner dynein arm, central apparatus defects and microtubular disorganization (IDA/CA/MTD; n=41) were significantly younger at diagnosis and had significantly lower percent predicted FEV1, weight and height z scores than the isolated outer dynein arm (ODA) defect (n=55) group. Patients with CCDC39 or CCDC40 mutations (n=34) had lower percent predicted FEV1, weight and height z-scores than those with DNAH5 mutations (n=36). The only group with a significant lung function decline over time were participants with IDA/MTD/CA defects.
Davis SD, Rosenfeld M, Lee HS et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med. 2018 Aug 1. doi: 10.1164/rccm.201803-0548OC. [Epub ahead of print]