Current Trends in the Diagnosis of Primary Ciliary Dyskinesia
نویسندگان
چکیده
منابع مشابه
Diagnosis of primary ciliary dyskinesia*
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigatio...
متن کاملDiagnosis and management of primary ciliary dyskinesia
Primary Ciliary Dyskinesia Centre, Southampton Children’s Hospital, Southampton NHS Foundation Trust, Southampton, UK Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK Division of Services for Women and Ch...
متن کاملAccuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
RATIONALE The standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unkno...
متن کاملPrimary ciliary dyskinesia: current state of the art.
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of cases. Cilia dysfunction is also implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems including retinopathy and hydrocephalus, and...
متن کاملPrimary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....
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ژورنال
عنوان ژورنال: Microscopy and Microanalysis
سال: 2013
ISSN: 1431-9276,1435-8115
DOI: 10.1017/s1431927613003024