Disease Information for Immotile cilia syndrome/Youngs syndrome

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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