Kartagener's syndrome: A genetic defect affecting the function of cilia

Abstract

Kartagener's syndrome, originally described as situs inversus, bronchiectasis, and sinusitis, has recently been demonstrated to be the result of a genetic defect manifest in structural and functional abnormalities of cilia. The absence of dynein arms in the cilia of patients with Kartagener's syndrome has been found be several investigators, utilizing electron microscopy. The cilia of four siblings, two with the syndrome and two without it, were studied by this method. The siblings with Kartagener's syndrome had specific abnormalities of the cilia and the normal siblings did not. The pathophysiology of the disease is discussed and applied to the evaluation and management of patients with Kartagener's syndrome and the immotile cilia syndrome.