The Genetic Disorders of Mucociliary Clearance Consortium
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Disorder Descriptions

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Primary Ciliary Dyskinesia (PCD)

Primary ciliary dyskinesia (PCD), also known as "immotile cilia syndrome" or "Kartagener Syndrome", is considered an unusual cause of persistent wheezing and cough in children. In addition to a chronic cough, this disease is also associated with recurrent or persistent infections of the lung, sinuses, and ears. Occurring in approximately 1 in 15,000 births, PCD is an inherited disease that causes impaired clearance of bacteria from the lung, paranasal sinuses, and middle ear. Half of the patients with PCD have their internal organs reversed, and men are usually infertile.

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Cystic Fibrosis

Occurring in all races, cystic fibrosis (CF) is the most common, inherited disease of Caucasians, and affects many parts of the body, including the lungs, paranasal sinuses, skin, pancreas, intestines, liver, and male reproductive tract. Historically, the diagnosis of CF has been based on the presence of typical clinical features and positive laboratory studies, including abnormal sweat tests or two identified mutant CF genes. However, it is clear that milder or variant forms of the disease exist, in which patients can have lung disease but normal or borderline elevated sweat tests or no identifiable mutant CF genes.

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Pseudohypoaldosteronism (PHA)

Pseudohypoaldosteronism (PHA) is a rare disease that causes increased lung fluids, and patients can have recurrent episodes of chest congestion and persistent cough.

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