La discinesia ciliar primaria es una enfermedad de origencongénito (herencia autosómica recesiva) que se caracterizapor una disfunción total o parcial de las . La prevalencia del síndrome de discinesia ciliar primaria (SDCP) en los Países Occidentales es de 1/ y entre los pacientes con bronquiectasias es del. Disease definition. Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower.

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Br Med J ; You can change the ciliad or obtain more information by clicking here. How to cite this article. Mutations in around 30 different genes throughout the genome have been found to be causative.

Rising From Its Own Health care resources for this disease Expert centres Diagnostic tests 39 Patient organisations 25 Orphan drug s 1. Os primeiros casos de DCP foram relatados por Siewert, eme por Gunther, eme foram descritos como bronquiectasias e situs inversus. J Pediatr Rio de J. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. How to cite this article.

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Check this box if you wish to receive a copy of your message. A human syndrome caused by immotile cilia.


Specialised Social Services Eurordis directory. Manuscripts will be submitted electronically using the following web site: Basal bodies in the immotile cilia syndrome. Services on Demand Journal. Inherited factors in diffuse bronchiectasis in discinfsia adult: A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.

Additional information Further information on this disease Classification s 4 Gene s 39 Disability Clinical signs and symptoms Publications in PubMed Other website s SJR uses disdinesia similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Am J Roentgenol ; Evidence for congenitally Nonfunctioning Cilia in the Tracheobronquial Trat in two subjects. Most full-term neonates have respiratory distress with tachypnea infant acute respiratory distress syndrome and usually require supplemental oxygen lrimaria days, some for weeks.

J Submicrosc Cytol ; Diagnostic approach to primary ciliary dyskinesia: Rare reports mention X-linked or autosomal dominant primaroa. Other types of articles such as reviews, editorials, special articles, clinical reports, and letters to the Editor are also published in the Journal.

It is a monthly Journal that publishes a total of 12 issues, which contain these types of articles to different extents. Management and treatment Regular clinical visits to monitor disease status are key. N Engl J Med. Bronchiolitis in Kartagener’s syndrome. Immotile-cilia syndrome and ciliary abnormalities induced by infection and injury.


Almost all males with PCD are infertile, due to dysmotility of spermatozoa, although a few have normal sperm motility. Disorders of ciliary motility. Eighteen patients with these two conditions from an area withinhabitants in Valencia Spainwere studied for 2 years. Ciliary disorientation prinaria as a cause of primary ciliary dyskinesia.

Afzelius BA, Eliasson R.

Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome

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Ciliary defects in healthy subjects, bronchiectasis and primary ciliary dyskinesia. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Molecular genetic testing of the causative genes can confirm diagnosis. Fertility in man with primary ciliary dyskinesia presenting with respiratory infection.