Later it also became apparent that in some affected patients immobility in their cilia could not be demonstrated but rather a disordered and ineffective pattern of motion( 6), which made the preferred term to describe affected patients as a distinct disease entity as Primary Ciliary Dyskinesia (PCD). Soon after, Afzelius followed this report with a recognition that individuals with defects in their ciliary structure could also present with situs solitus, thus expanding on the phenotype associated with the disease( 5). Pedersen ( 4) working independently reported on axonemal ultrastructural abnormalities demonstrated by Electron Microscopy (EM) leading to lack of motility in the sperm tail (Afzelius) and respiratory cilia (Pedersen) as the basic defect in affected patients. Although in the following decades a large number of cases accumulated making the association clearly recognized, as well as its recessive inheritance pattern, the etiology for the syndrome remained elusive.
#A k zivert series#
It was not until 1933 that Manes Kartagener in his studies on the etiology of bronchiectasis, reported on a case series of subjects with similar manifestations and thus establishing what became known as the Kartagener’s triad of situs inversus totalis, chronic sinusitis and suppurative bronchiectasis as a distinct clinical entity( 2)( Figure 1). Zivert, who in 1904 reported on a case of situs inversus totalis complicated by chronic sinusitis and bronchiectasis( 1). The first clinical description of PCD can be credited to the Russian physician A.K. As a direct consequence of this defect, patients with this disorder are prone to serious respiratory infection and develop progressive obstruction and infection of the bronchial airways, as well as recurrent infections of the middle ear and paranasal sinuses.
Primary ciliary dyskinesia (PCD) is a heterogeneous, predominantly autosomal recessive genetic disease that is the result of impaired ciliary function and defective mucociliary clearance in the respiratory tract.
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