Primary ciliary dyskinesia.
نویسندگان
چکیده
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.1 Early diagnosis is important to prevent disease progression.2 Examination of nasal or bronchial biopsy specimens by electron microscopy is the definitive diagnostic test. We present a 36-year-old woman with a history of recurrent lower-respiratory-tract infections and bronchiectasis. She was diagnosed with PCD, based on clinical presentation and electron microscopy of bronchial biopsy.
منابع مشابه
گزارش دو مورد اختلال حرکت اولیه مژک ها (گزارش مورد)
Primary ciliary dyskinesia and Kartagener's syndrome are rare genetic disorders. There is a ciliary dysfunction in these disorders that cause recurrent infections in respiratory and sinus tracts associated with dextrocardia, chronic vasomotor rhinitis and dextrocardia. The aim of this paper is to report two rare cases of Primary ciliary dyskinesia, including one case of primary ciliary dyskin...
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Background: Asthenozoospermia, as the most prevalent cause of male infertility, is defined as low percentage of progressively motile spermatozoa per ejaculate. It occurs in both non-syndromic and syndromic forms and later it manifests as a part of primary ciliary dyskinesia. In the last decade, with the advent of Next-generation sequencing technologies numerous genes have been introduced in the...
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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...
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Nasal nitric oxide levels are low in patients with primary ciliary dyskinesia, but it is not known whether this defect is already present in the first months of life. The current authors measured nasal nitric oxide in two infants with situs inversus and primary ciliary dyskinesia, diagnosed by electron microscopy at 4 and 6 months of age, and in five healthy control infants. Nasal nitric oxide ...
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1 Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92: 1136–1140. 2 Lie H, Ferkol T. Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Drugs 2007; 67: 1883–1892. 3 Pifferi M, Cangiotti AM, Ragazzo V, et al. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evalua...
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ورودعنوان ژورنال:
- Respiratory care
دوره 58 8 شماره
صفحات -
تاریخ انتشار 2013