Kartagener syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias (about 50% of patients with PCD have situs viscerum inversus and are classified as affected of Kartagener syndrome).
In 1933,
Kartagener described the triad consisting of dextrocardia,
chronic vasomotor rhinitis,
and bronchiectasis as a particular clinicopathological entity.
He also emphasized the familial and hereditary character of this syndrome (it is inherited via an autosomal recessive pattern),
which now bears his name,
Kartagener syndrome.1
Camner et al.
first suggested ciliary dyskinesia as the primary cause of this syndrome in 1975.
They described in two patients poor mucociliary clearance because the cilia that lined their upper airways were not functioning.2
Afzelius showed in some bronchial mucosal biopsy,
abnormal cilia,
poorly mobile and he pointed up the absence of dynein arms.3-4
Finally in 1981 Rossman et al coined the term primary ciliary dyskinesia (PCD) because some patients with Kartagener syndrome had cilia not immobile (previously this syndrome was known as “immotile cilia syndrome”) but exhibited an uncoordinated and inefficient movement due to various patterns of ciliary ultrastructural defects.5
Kartagener syndrome is defined as “rare disease” because the incidence is approximately of 1 in 32000 live births,
with an equal distribution between female and male sex.
Most important clinical manifestations include chronic upper and lower respiratory tract disease resulting from ineffective mucociliary clearance; the symptoms of chronic sinusitis,
bronchitis,
and bronchiectasis are more severe during the first decade of life but remit somewhat by the end of adolescence.
Males are generally infertile because of immotile sperms,
however some males have completely normal spermatozoa and cases of semi-sterility in females have been reported.
Patients with Kartagener syndrome may also have anosmia.6
Morbidity in PCD is predominantly related to chronic suppurative airway disease secondary to chronic infection.
Imaging studies are important tools in the detection and management of this patients.
Sinus radiographs (which largely have been supplanted by sinus CT scans) typically demonstrate mucosal thickening,
opacified sinus cavities,
and hypoplastic frontal sinuses.
Chest radiographs may illustrate bronchial wall thickening as an early manifestation of chronic infection,
hyperinflation,
atelectasis,
bronchiectasis,
and situs inversus that strongly suggests Kartagener syndrome (KS).
High-resolution CT scan of the chest is the most sensitive modality for documenting early and subtle abnormalities within airways and pulmonary parenchyma when compared to routine chest radiographs.
Most important abnormalities includes bronchiectasis (central and peripheral),
mucous plugging (large airways and small airways),
peribronchial thickening (central and peripheral),
parenchyma abnormalities,
and hyperinflation.7
The aim of this study is to characterize and to assess the prevalence of the most frequent abnormalities,
detected in sinus radiographs,
CT sinus scan,
chest radiographs and high-resolution CT scan of patients with Kartagener syndrome.