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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Ciliary dyskinesia in the nose and the paranasal sinuses. J Med Genet ; Mutations in the DNAH11 axonemal primarja chain dynein type 11 gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Print Send to a friend Export reference Mendeley Statistics. Translators working for discinesiz Journal are in charge of the corresponding translations. SNIP measures contextual citation discineaia by wighting citations based on the total number of citations in a subject field. Detailed information Article for general public Svenska CiteScore measures average citations received per document published.


Additional information Further information on this disease Classification s 4 Gene s 39 Disability Clinical signs and symptoms Publications in PubMed Other website s No presente relato, quatro pacientes eram do sexo masculino.

Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome

Full text is only aviable in PDF. Hospital Practice, 21discinssia. Pediatrics, 23pp. Specialised Social Services Eurordis directory. Sinus disease can be treated with nasal steroids and nasal lavage.

Orphanet: Discinesia ciliar primaria

How to cite this article. Summary and related texts. N Engl J Med.

Si continua navegando, consideramos que dlscinesia su uso. Disorders of ciliary motility. You can change the settings or obtain more information by clicking here. N Engl J Med ; To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.

Dos seis pacientes estudados, cinco apresentavam situs inversus.

Uber einen Fall von Bronchektasie bei einen Patient mit Situs inversus doscinesia. Continuing navigation will be considered as acceptance of this use. Reduced fertility or a history of ectopic pregnancies has been reported in affected women. A human syndrome caused by immotile cilia. Am J Crit Care Med ; A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.


Differential diagnosis The main differential diagnoses are cystic fibrosis see this termimmunodeficiency syndromes, gastroesophageal reflux, and Wegener’s Granulomatosis see this term. Regular clinical visits to monitor disease status are key.

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The immotile cilia syndrome: Jorissen M, Bertrand B. Affected patients develop signs of PCD at birth or within the first few months of life.

Am Rev Respir Dis,pp. Des anomalies ciliaires son-elles toujous presents dans le syndrome de Kartagener?. Other search option s Alphabetical list.

Fertility in man with primary ciliary dyskinesia presenting with respiratory infection. Clinical expressions of immotile cilia syndrome.

Acta Otorhinolaryngol Belg ; Management and treatment Regular clinical visits to monitor disease status are key.