Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.

ABSTRACT:

Rationale

In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly understood.

Objectives

To describe early lung disease progression in primary ciliary dyskinesia and identify associations between ultrastructural defects and genotypes with clinical phenotype.

Methods

This was a prospective, longitudinal (5 yr), multicenter, observational study. Inclusion criteria were less than 19 years at enrollment and greater than or equal to two annual study visits. Linear mixed effects models including random slope and random intercept were used to evaluate longitudinal associations between the ciliary defect group (or genotype group) and clinical features (percent predicted FEV₁ and weight and height z-scores).

Measurements and main result

SUBMITTER: Davis SD 

PROVIDER: S-EPMC6353004 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature