Discinesia ciliar primária é uma doença autossômica recessiva caracterizada pela história de infecções repetidas do trato respiratório superior e inferior, otite. Disease definition. Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower. Resumo. INIGUEZ C, Rodrigo et al. Clinical and ultrastructural features of ciliary dyskinesia. Rev. méd. Chile [online]. , vol, n.9, pp

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Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia? Br Med J ; Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. Antibiotic therapy is required and routine immunization is recommended.

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Dos seis pacientes estudados, cinco apresentavam situs inversus. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. Am J Crit Care Med ; Nasal brushing and measurement of ciliary beat frequency.

Prevalence is difficult to determine. Audiological assessment, hearing aids, and communication assistance should be offered where necessary.

N Engl J Med ; Pulmonary disease in PCD is related to defects in lung defense mechanisms due to abnormal ciliary ciluar and function with impaired mucociliary clearance. Didquinesia main differential diagnoses are cystic fibrosis see this termimmunodeficiency syndromes, gastroesophageal reflux, and Wegener’s Granulomatosis see ciluar term.


Eur J Pediatr ; Immotile cilia syndrome primary ciliary dyskinesia and inflammatory lung disease. Bronchiolitis in Kartagener’s syndrome. Rare reports mention X-linked or autosomal dominant inheritance. Services on Demand Journal. Diagnostic approach to primary ciliary dyskinesia: A human syndrome caused by immotile cilia.

Eur J Respir Dis Suppl. Detailed information Article for general public Svenska Am J Med Sci. Almost all males with PCD are infertile, due to dysmotility of spermatozoa, although a few have normal sperm motility.

Regular clinical visits to monitor disease status are key. Geremek M, Witt M. Molecular genetic testing of the causative genes can confirm diagnosis. Brauer MM, Viettro L.

Orphanet: Primary ciliary dyskinesia

The immotilia cilia syndrome: Jorissen M, Bertrand B. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Radiografia de seios da face com velamento dos seios maxilares e etmoidais.

Ciliary defects in healthy subjects, bronchiectasis and primary ciliary dyskinesia. How to cite this article. Afzelius BA, Eliasson R. Berl Klin Wochenschr ; How to cite this article. Eur Respir J ; Antenatal diagnosis If disease-causing mutations are known in a family, prenatal diagnosis can be performed.

Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome

Sinus disease can be treated with nasal steroids and nasal lavage. Clinical description Affected patients develop signs of PCD at birth or within the first few months of life.


J Med Genet ; Affected patients develop signs of PCD at birth or within the first few months of dksquinesia. Secondary ciliary dyskinesia is absent after ciliogenesis in culture.

Genetics aspects of immotile cilia syndrome. Chronic otitis media is common, sometimes with temporary or permanent hearing loss and impaired speech development. Primary ciliary dyskinesia PCD is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease.

SCS Quadra 1, Bl. Specialised Social Services Eurordis directory. Clinical expressions of immotile cilia syndrome. Additional information Further information on this disease Classification s 4 Gene s 39 Disability Clinical signs and symptoms Publications in PubMed Other website s The diagnosis is established by ciliary ultrastructural analysis of respiratory specimens, after ruling out some disorders as cystic fibrosis, a -1 anti-trypsin deficiency, immune deficiencies IgG, neutrophils and complement and Young’s syndrome.

Health care resources for this disease Expert centres Diagnostic tests 39 Patient organisations 25 Orphan drug s 1. The prognosis depends on timely diagnosis and appropriate treatment.