Abstract
Primary ciliary dyskinesia (PCD) is an inherited disease affecting the structure and function of the cilia lining the respiratory tract. Because functioning cilia are paramount in mucociliary clearance mechanisms, PCD results in recurrent ear, nose and lung infections, as well as neonatal respiratory distress. Kartagener’s syndrome, a triad of situs inversus totalis, recurrent sinusitis and bronchiectasis was first described in 1933, and is now recognized as only one of the classical phenotypes of PCD (Figure 1). Infertility occurs in the majority of males with PCD. Hydrocephalus, complex heart disease, polysplenia and biliary atresia are uncommon associations. Figure 1) High resolution computed tomography scan of the chest of an eight-year-old boy with Kartagener’s syndrome (primary ciliary dyskinesia with situs inversus totalis) showing extensive bronchiectasis at a young age PCD is a rare disease with an estimated incidence of approximately 1:15,000; thus, it often does not get attention in a medical school curriculum and is not the focus of much research. As a result, it is often underdiagnosed and undertreated. There are many myths about the presentation and treatment of PCD that are only becoming evident with newer multicentre collaborative research efforts that have allowed larger numbers of patients to be studied together. The present brief commentary will touch on some of the myths and realities of PCD that have recently become evident.
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