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Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare autosomal recessive genetic disorder caused by a defect in the action of cilia lining the respiratory tract. Specifically, it is a defect in dynein protein arms within the ciliary structure. more...

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When accompanied by the triad of situs inversus, chronic sinusitis, and bronchiectasis, it is known as Kartagener syndrome.

The dysfunction of the cilia begins during the embryologic phase of development. Since the cilia aid in the movement of growth factors resulting in the normal rotation of the internal organs during early embryological development, 50% of these individuals will develop situs inversus or dextrocardia.

The result is impaired ciliary function, reduced or absent mucus clearance, and susceptibility to chronic, recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. The disease typically affects children up to 18 years of age, but the defect associated with it has a variable clinical impact on disease progression in adults as well. Many patients experience hearing loss, and infertility is common. Clinical progression of the disease is variable with lung transplantation required in severe cases. For most patients, aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections are recommended. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000 or higher.

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Mutations in DNAI1 cause primary ciliary dyskinesia - IC78
Abbreviations: ODA = outer dynein arm; PCD = primary cilliary dyskinesia Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive ...
Lithoptysis and pulmonary calcification in primary ciliary dyskinesia
PURPOSE: Primary ciliary dyskinesia (PCD) is characterized by sino-pulmonary disease associated with abnormal ciliary structure and function leading ...
Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia
Rationale: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by recurrent infections of the airways and situs inversus ...
Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia
Study objective: To examine the usefulness of exhaled and nasal nitric oxide (NO) measurements to detect primary ciliary dyskinesia (PCD) in children.
Central Microtubular Agenesis Causing Primary Ciliary Dyskinesia
Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic upper and lower respiratory tract symptoms. We report the diagnosis ...
Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. We hypothesized that the major clinical ...
Primary Ciliary Dyskinesia Associated With a Novel Microtubule Defect in a Child With Down's Syndrome - )
We present a child with Down's syndrome, bilateral lower lobe bronchiectasis, sinusitis, and severe ear disease who was found to have a novel ciliary ...
The Effect of Regular Salbutamol on Lung Function and Bronchial Responsiveness in Patients with Primary Ciliary Dyskinesia - )
Study objective: There is growing evidence that regular [[Beta].sub.2]-agonist use in patients with asthma is associated with decreased airway caliber ...

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