| Popis: |
Primary ciliary dyskinesias (PCD) are rare genetic diseases with autosomal recessive transmission, affecting nearly 1/15000 births, due to a structural/functional defect of cilia. Kartagener syndrome (KS) represents 50% of PCDs and is characterised by the triad of bronchiectasis, chronic sinusitis and situs inversus. It is manifested by clinical signs of upper and lower respiratory infections or infertility. Situs inversus is often discovered incidentally. The diagnosis is confirmed by specialized centers and is based on analysis of ciliary ultrastructure by electron microscopy or ciliary beats by light microscopy/high speed video microscopy , measurement of nasal nitric oxide flow and genetic tests. Treatment is supportive and in line with recommendations for the management of cystic fibrosis or idiopathic adult bronchiectasies. It includes respiratory physiotherapy, antibiotic medication to treat infections, vaccinations and local treatment of the otorhinolaryngeal tract if necessary. We present here the case of a 23-year-old woman with a history of recurrent respiratory infections since her early age, who consulted for cough, chronic bronchorrhea and dyspnea. The evolution to respiratory failure is slowed by the early diagnosis and management of exacerbations. |
