Primary Ciliary Dyskinesia: Ready for Quality of Life Assessment.
نویسندگان
چکیده
Primary ciliary dyskinesia (PCD) is a chronic, inherited disease characterized by ciliary dysfunction leading to defects in mucociliary clearance, thus causing upper and lower respiratory problems such as sinusitis and bronchiectasis as well as infertility. Diagnostic workup includes a combination of different techniques such as nasal nitric oxide measurement, high-speed video microscopy analysis, electron microscopy, and genetic analysis because there is no single gold standard due to the genetic and phenotypic heterogeneity of the disease [1,2].
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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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:
- Turkish thoracic journal
دوره 18 2 شماره
صفحات -
تاریخ انتشار 2017