Diagnostic challenges of primary ciliarydyskinesia in adults: clinical case

Abstract

Background. In pediatric practice, there exists a rare and difficult-to-diagnose hereditary disorder known as Kartagener syndrome, which is a clinical manifestation of primary ciliary dyskinesia. A classic triad of signs characterizes this disease: situs inversus, chronic bronchiectasis, and chronic rhinosinusitis, leading to persistent respiratory dysfunction, recurrent infections, and a significant reduction in patients’ quality of life. It is precisely these patients who should be monitored throughout their lives—starting in childhood— using modern diagnostic methods to prevent irreversible changes in the bronchopulmonary system and to adjust therapy in a timely manner. The primary objective of this study is to present and analyze a clinical case of Kartagener syndrome in an adult patient diagnosed late in life, with the aim of raising awareness among physicians across various specialties regarding this rare condition and highlighting the importance of early detection during childhood. Materials and methods. A local, multidisciplinary case study was conducted, documenting the clinical presentation of primary ciliary dyskinesia in an adult patient admitted to the Department of Allergology and Immunology at the Mordovian Republican Central Clinical Hospital. The diagnosis was confirmed based on patient complaints, medical and personal history, physical examination, and laboratory and instrumental findings: complete blood count, sputum cytology, total IgE, electrocardiography, spirometry, and chest computed tomography. Conclusions. This case illustrates important aspects of Kartagener syndrome in an adult patient with a delayed diagnosis. Physicians across various specialties– including pediatricians, general practitioners, pulmonologists, and ENT specialists– need to maintain a high index of suspicion regarding a rare, serious hereditary disease, particularly when a patient presents with situs inversus (reversal of the internal organs) combined with chronic bronchopulmonary and ENT disorders. Timely diagnosis of Kartagener syndrome in childhood makes it possible to prevent the development of irreversible complications, slow the progression of bronchiectasis, and significantly improve patients’ quality of life and prognosis.