Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary movement and impaired mucociliary clearance. Kartagener syndrome is an autosomal recessive primary ciliary dyskinesia syndrome characterized by situs inversus, bronchiectasis and chronic sinusitis and is the most serious form of PCD, accounting for 50% of all PCD cases. In these syndromes, there is both movement and structural defect in the cilia, and mucociliary clearance is impaired. Symptoms usually appear in childhood. Organ anomalies can also be seen in Kartagener syndrome. Primary ciliary dyskinesia is a disease that threatens lung functions starting from preschool age. One of the main causes of respiratory muscle weakness in chronic lung diseases is worsening of lung functions. Evaluation of exercise capacity in patients with PCD has prognostic importance. Decreased exercise capacity, respiratory function, and cardiopulmonary function cause physical inactivity. In chronic lung diseases, sedentary lifestyle, airway obstruction, malnutrition and decreased exercise capacity cause muscle weakness. Muscle strength and function are important for performing activities of daily living. There is no study in the literature comparing respiratory and physical functions in children with PCD and in children with Kartagener's syndrome, which is the most serious form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.~The study was planned as a cross-sectional, retrospective. Individuals aged 6-18 years, who were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment, were included in the study. For the healthy group, individuals aged 6-18 years without a known chronic disease were included. Individuals' exercise capacity, respiratory functions, physical activity levels, peripheral and respiratory muscle strength, respiratory muscle endurance and quality of life will be evaluated. Exercise capacity evaluated using six-minute walk test, physical activity using multi-sensor activity monitor, pulmonary function using spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle strength using hand-held dynamometer, respiratory muscle endurance using incremental threshold loading test, life quality using The Primary Ciliary Dyskinesia Quality of Life scale (Turkish version). The assessments will be completed in two days.
Studies evaluating respiratory and peripheral muscle functions in PCD patients and comparing them with healthy children are limited in the literature. There is no study investigating pulmonary and extrapulmonary effects in Kartagener syndrome, which is a form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.