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Kartagener syndrome

Kartagener syndrome

Schlüsselwörter Kartagener syndrome; ICD 10: Q89.3; sinusitis-bronchiectasis-situs inversus (triad) syndrome
Keywords Kartagener syndrome; ICD 10: Q89; sinusitis-bronchiectasis-situs inversus (triad) syndrome
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Kartagener’s syndrome (KS) is a rare autosomal recessive genetic disorder with a prevalence of 1:32,000, constituting about 50% of the primary ciliary dyskinesia (PCD) and characterised with a course including the triad of sinusitis, bronchiectasis and situs inversus.

It was first described by Siewert in 1904, but Kartagener recognised the triad of disorders as a distinct congenital syndrome only in 1933. More than 35 gene mutations causing the disorder of ciliary morphology and function are known to be involved in PCD. Most areas of the upper airways including the nasal mucosa, paranasal sinuses, the middle ear, Eustachian tube and the pharynx, and of the lower airways, from trachea to down to the respiratory bronchioles, are lined with ciliated epithelium.

Dysfunction or lack of the dynein arms enabling ciliary motion ( normally they are attached to the structural elements making up the cilium) results in the disruption of the coordinated ciliary movement and the propulsion of the mucus. Retention and accumulation of mucus leads to a variety of recurrent infections in the chest, ears, nose, throat and the sinuses. Also observed is male infertility due to immotile spermatozoa.

Typical symptoms of chronic sinusitis, bronchitis, bronchiectasis are severer in the first decade of life, moderating within the second decade. Severe cases of KS could be fatal unless lung transplantation is carried out. A small percentage of the KS patients present with hydrocephalus. The ependymal cells in the lining of the brain ventricles involved in CSF production are also ciliated. Impaired ciliary function may involve prevention of CSF reabsorption resulting in development of communicating hydrocephalus that causes chronic headache. Situs inversus is the congenital condition in which the major intrathoracic and/or intraabdominal organs are reversed or mirrored from their normal positions, possibly resulting from lack of ciliary control of the organ positioning in the embryo with primary ciliary dyskinesia. Normally, a cilium has a rotary motion which drives a vectorial movement, which accounts for laterality of organ lateralisation during embryogenesis. Organ lateralisation will be random if the ciliary function is absent. Incomplete/complete situs inversus is seen in about a half of the PCD syndrome cases. 

During the embryonic stage, ciliary dyskinesia may lead to other organ anomalies such as biliary atresia, intestinal malrotation, asplenia, and polysplenia. Although frequent development of upper and lower airway infections after birth, comorbidity of situs inversus and a family history may suggest KS, but the definitive diagnosis depends on ciliary ultrastructural analysis or molecular genetic testing. There is no “gold standard” diagnostic test for PCD. Electron microscopy (EM) has been the traditional test used to confirm a diagnosis of PCD; however, it cannot be used to diagnose patients with PCD (15-20%) with normal ultrastructure. Currently, not all gene mutations that cause PCD have yet been discovered. fluorescence analysis is said to be highly specific for PCD, but its sensitivity is currently limited. Ciliary beat pattern (CBP) and frequency (CBF) measurement have been recommended as a first-line diagnostic test for PCD.