Kartagener syndrome

Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Its incidence is about 1 in 30, 000 live births.

Siewert first described the combination of situs inversus, chronic sinusitis, and bronchiectasis1 in 1904. However, Manes Kartagener first recognized this clinical triad as a distinct congenital syndrome in 1933.

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 transplant is carried out. A small percentage of the KS patients present with hydrocephalus.

Patients generally present with recurrent upper and lower respiratory tract infection because of ineffective mucociliary clearance. As sperm mortility is dependent on ciliary function, males are generally sterile.
Kartagener syndrome