Pdf kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that. Aug 05, 2019 kartagener syndrome, current data on a classical disease. Even the most elite runner may lose valuable workout time when training terrain, equipment, or the progression of workouts, is not appropriate. Kartagener syndrome can be caused by changes mutations in many different genes. Kartagener s syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and. Nov 19, 2011 i pazienti con situs inversus associato ad altri tipi di malattie respiratorie, come asma o rinite atopica, non dovrebbero essere confusi con i pazienti affetti da sindrome di kartagener. Kartagener s syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. Primary ciliary dyskinesia pcd, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract lower and upper, sinuses, eustachian tube, middle ear, fallopian tube, and flagellum of sperm cells. A fiftyfive yearold male was referred to allergy consultationfor uncontrolled asthma, despite treatment with budesonide 400.
Dec 12, 2018 kartagener syndrome is inherited in an autosomal recessive manner. All structured data from the file and property namespaces is available under the creative commons cc0 license. You may do so in any reasonable manner, but not in any way that. Kartageners syndrome ks is a rare autosomal recessive genetic disorder with a. A rare autosomal recessive disorder kartageners syndrome is a classic triad of sinusitis, situs inversus and bronchiectasis which is a type of primary ciliary. This page was last edited on 23 october 2019, at 07. Differential diagnoses for immotilecilia syndrome include. This article is a case report of a 26 years old woman with history of. Files are available under licenses specified on their description page. Kartagener syndrome is an autosomic recessive hereditary disease characterized of primary ciliary dyskinesia, chro nic cough, chronic sinusitis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, earnosethroat symptoms, and infertility. Among the most common factors causing injury in long distance runners are training errors.
I sintomi sono difetti di motilita delle ciglia cellulari. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia. This file is licensed under the creative commons attribution 2. Late clinical diagnosis and some of its consequences. Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function. Kartagenersyndrom kartagenertrias ziliendyskinesie, primare. Cilia are tiny, hairlike structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs.
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