Primary ciliary dyskinesia--an underdiagnosed entity.
نویسندگان
چکیده
Primary ciliary dyskinesia (PCD) also known as immotile cilia syndrome is a genetic disorder characterised by chronic infections of the upper and lower respiratory tracts, male infertility and situs inversus totalis. Authors are presenting clinical details of a patient who was operated upon for recalcitrant rhinosinusitis. Investigations carried to find out the predisposing factors for such sinusitis, resulted in diagnosing the patient a case of PCD, a rare but well known cause of recalcitrant sinusitis.
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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BACKGROUND Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnostic difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software that we developed for analysis of ciliary motilit...
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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...
متن کاملNasal nitric oxide is low early in life: case study of two infants with primary ciliary dyskinesia.
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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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 58 شماره
صفحات -
تاریخ انتشار 2010