title: Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome.
abstract: Primary ciliary dyskinesia (PCD) is associated with abnormalities in the structure of a function of motile cilia, causing impairment of muco-ciliary clearence, with bacterial overinfection of the upper and lower respiratory tract (chronic oto-sino-pulmonary disease), heterotaxia (situs abnormalities), with/without congenital heart disease, abnormal sperm motility with male infertility, higher frequency of ectopic pregnancy and female subfertility. The presence of recurrent respiratory tract infections in the pediatric age requires differentiation between primary immunodeficiency, diseases with abnormal mucus (e.g., cystic fibrosis) and abnormal ciliary diseases. This case was hospitalized for recurrent respiratory tract infections and total situs inversus at the age of five years, which has enabled the diagnosis of Kartagener syndrome. The PCD confirmation was performed by electron microscopy examination of nasal mucosa cells through which were confirmed dynein arms abnormalities. The diagnosis and early treatment of childhood PCD allows a positive development and a good prognosis, thus improving the quality of life.
authors.affiliation: "Grigore T. Popa" University of Medicine and Pharmacy, Iassy, Romania; aniela_virlan@yahoo.com.
authors.forename: Aniela Luminiţa
authors.initials: AL
authors.lastname: Rugină
authors.forename: Alexandru Grigore
authors.initials: AG
authors.lastname: Dimitriu
authors.forename: Nicolai
authors.initials: N
authors.lastname: Nistor
authors.forename: Doina
authors.initials: D
authors.lastname: Mihăilă
mesh_terms: D002648:Child; D002923:Cilia / Q000473:pathology / Q000648:ultrastructure*; D003914:Dextrocardia / Q000150:complications / Q000000981:diagnostic imaging; D004562:Electrocardiography; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D008854:Microscopy, Electron; D011860:Radiography, Abdominal; D013902:Radiography, Thoracic; D014463:Ultrasonography