Abstract
English:
Introduction
Kartagener syndrome, a clinical form of primary ciliary dyskinesia (PCD), is a rare genetic disorder characterised by situs inversus, bronchiectasis and chronic sinusitis, resulting from ciliary dysfunction. Its coexistence with cystic fibrosis (CF), a severe multisystem genetic disease, is rarely described. In PCD, airway secretion accumulation occurs due to ciliary immobility, whereas in CF it results from altered mucus viscosity and composition. The association of these two conditions accelerates airway remodelling, progressive loss of pulmonary parenchyma and increases the risk of recurrent infectious complications.
Case presentation
We report the case of a 21-year-old patient with a history of multiple hospitalisations, diagnosed with Kartagener syndrome, CF, bronchiectasis, intestinal malabsorption, chronic serous otitis media and complete situs inversus, undergoing chronic treatment with inhaled dornase alfa and pancreatin. He presented with fever, productive cough and anterior chest pain. Laboratory tests revealed inflammatory syndrome, chest radiography showed bronchiectatic changes with signs of superinfection, and sputum culture identified Haemophilus influenzae. Clinical and biological evolution was favourable under antibiotic therapy according to the antibiogram, associated with fluid and electrolyte rebalancing, physiotherapy and anti-inflammatory treatment.
Discussion
This case highlights the coexistence of two genetic conditions with distinct pathophysiological mechanisms but convergent severe respiratory consequences, leading to impaired mucociliary clearance, airway secretion accumulation and an increased risk of recurrent respiratory infections.
Conclusions
The rare association of Kartagener syndrome with CF highlights the risk of inadequate management in CF patients when coexisting PCD, more difficult to diagnose, is not recognised. Although pathogenetically different, the two diseases act synergistically, worsening respiratory dysfunction, increasing infectious complications and negatively impacting prognosis and quality of life.