Primary ciliary dyskinesia in children, Kartagener syndrome: A clinical case

Abstract

Relevance: Primary ciliary dyskinesia (PCD) is a rare hereditary genetic disease caused by the failure of the ciliated epithelium in the body of the predominantly respiratory system, leading to the development of a chronic respiratory system inflammatory lesion in children, underdevelopment (hypoplasia) of the paranasal sinuses, which often leads to recurrent sinusitis; to the reverse arrangement of internal organs, impaired fertility in older patients.
The study aimed to present a clinical case of primary ciliary dyskinesia and Kartagener syndrome to raise awareness among primary care physicians, pediatricians, and specialists.

Materials and Methods: Data from the medical record of an inpatient repeatedly treated at «Scientific Center of Pediatrics and Pediatric Surgery» JSC (Almaty, Kazakhstan) were studied. We used a descriptive method. The results of diagnostic studies are presented under clinical recommendations (general blood tests, urine tests, bacteriological tests, radiography and computed tomography of the chest, echocardiography, electrocardiogram, and bronchoscopy).
Results: The study describes a clinical case of late diagnosis and outcomes of PCD in a child with Kartagener’s syndrome with the development of bronchiectasis changes in the respiratory system. In adolescence, the patient had to undergo lobectomy of the middle lobe of the left-located right lung surgery. The disease was recurrent and required the patient to receive symptomatic and rehabilitation therapy.
Conclusion: Late verification of the diagnosis «Congenital malformation of the lungs PCD, Kartagener’s syndrome» contributed to the development of bronchiectasis as irreversible complications from the respiratory system - as a result of PCD. Patients with PCD have congenital failure of the ciliated epithelium of the respiratory system, so systematic treatment and regular rehabilitation measures are necessary to achieve long-term remission of the clinical manifestations of the disease. The variety of clinical manifestations of Kartagener’s syndrome and the difficulty of verifying PCD at the outpatient level require close attention from specialists in children with frequent recurrent respiratory tract diseases in combination with ENT organ pathologies. The presented clinical case will increase the awareness and alertness of primary care physicians (general practitioners, pediatricians) about this pathology.