[Primary ciliary dyskinesia in situs inversus without bronchiectasis]

Abstract

Background: In adults suffering from Kartagener's syndrome-which is found in 50% of patients with primary ciliary dyskinesia (PCD)-bronchiectasis is still one of three typical clinical features. In this condition it is caused by chronic bacterial inflammation as a result of impaired mucociliary clearance in congenital ciliary dysfunction. Little information is available on the incidence, age-related development and prophylactic therapy of bronchiectasis in children suffering from PCD.

Case report/results: We describe the case of a 2-year old boy with clinical features of Kartagener's syndrome who showed impaired ciliary motility and typical ultrastructural defects of PCD. Bronchiectasis was excluded by bronchography.

Conclusions: The diagnosis of PCD implies disturbed ciliary motility and abnormal ultrastructure of the cilia. In 50% of cases PCD is associated with situs inversus and is then referred to as kartagener's syndrome, whereas situs inversus itself does not define Kartagener's syndrome. Bronchiectasis is not necessarily present in children with PCD. Physiotherapy, inhalations, vaccinations and early antibiotic treatment may be of prophylactic value in preventing bronchiectasis. Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria.