Disease Information for Immotile cilia syndrome/Youngs syndrome

Synonyms:

Cilia Syndrome Immotile, Cilia Syndromes Immotile, Ciliary Dyskinesia, CILIARY DYSKINESIA PRIMARY, Ciliary Dyskinesias, CILIARY MOTILITY DIS, Ciliary Motility Disorder, Ciliary Motility Disorders, Disorder Ciliary Motility, Disorders Ciliary Motility, Dyskinesia Ciliary, Dyskinesias Ciliary, Dysmotile cilia syndrome, ICS, ICS Immotile cilia syndrome, Immotile cilia syndrome, Immotile cilia syndrome (disorder), Immotile Cilia Syndromes, PCD, PCD Prim ciliary dyskinesia, PCD Primary ciliary dyskinesia, POLYNESIAN BRONCHIECTASIS, Primary ciliary dyskinesia, Primary ciliary dyskinesia RETIRED, Syndrome Immotile Cilia, Syndromes Immotile Cilia

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Definition:

Ciliary dyskinesia syndrome,(also called immotile cilia syndrome), disorder characterized by abnormal ciliary structure and function throughout the body; Males are infertile; The impaired mucociliary clearance is associated with recurrent upper and lower respiratory tract infections; In ciliary dyskinesia syndrome, there is an autosomal recessive pattern inheritance but there is genetic heterogeneity and discordance in phenotypic presentation; Bronchiectasis develops in childhood and adolescence and is associated with recurrent pneumonias; Radiological findings include bronchial wall thickening, bronchiectasis, overinflation and focal areas of consolidation and atelectasis; A subset of ciliary dyskinesia syndrome is Kartageners syndrome , which features situs inversus, paranasal sinusitis and bronchiectasis --------[medcyclopedia_com 2005]-------------

Primary Ciliary Dyskinesia (PCD), also known as Immotile Cilia Syndrome, is a rare genetic birth defect that involves the blocking of respiratory passages; Patients with PCD have abnormal or absent ciliary motion; Cilia are tiny hair-like structures that move mucus out of the respiratory passages; During infections more mucus is produced and because the abnormal cilia can"t move or move ineffectively, mucus becomes stuck and blocks the respiratory tract, causing various complications; PCD is commonly characterized by chronic sinusitis and bronchiectasis; Bronchiectasis occurs when the bronchial tubes are blocked and chronically infected, causing the tubes to weaken and stretch out; The widened tubes allow more mucus and bacteria to accumulate, leading to infection and possibly pneumonia; Trapped mucus can also cause difficulty breathing, wheezing, and coughing to clear the mucus; It is estimated that the prevalence of PCD is approximately 1 in 16,000 live births; Kartagener"s Syndrome is a variant of PCD that results from a combination of chronic sinusitis, bronchiectasis and situs inversus, where some of the patient"s organs are reversed; About 50 percent of patients with PCD have Kartagener"s Syndrome

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