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

Author: Kajizragore Moogulabar
Country: Bermuda
Language: English (Spanish)
Genre: Literature
Published (Last): 2 July 2013
Pages: 154
PDF File Size: 12.4 Mb
ePub File Size: 16.94 Mb
ISBN: 417-4-93869-202-5
Downloads: 20233
Price: Free* [*Free Regsitration Required]
Uploader: Shakakinos

Secondary ciliary dyskinesia is absent after ciliogenesis in culture. Os outros dois casos eram de pacientes adultos, do sexo feminino e sem filhos.

Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. 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.

Check this box if you wish to receive a copy of your message. The immotile cilia syndrome: Ciliary dyskinesia in the nose and the paranasal sinuses. Brauer MM, Viettro L.

Ciliary disorientation alone as a cause of primary ciliary dyskinesia. Dos seis pacientes estudados, cinco apresentavam situs inversus. Basal bodies in the immotile cilia syndrome. Affected patients develop signs of PCD at birth or within the first few months of life.


Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Dos seis pacientes estudados, quatro foram submetidos a broncografias bilaterais com um intervalo de tempo de 30 dias entre um e outro lado, naturalmente antes do surgimento da tomografia computadorizada. For all other comments, please send your remarks via contact us. Prognosis The prognosis depends on timely diagnosis and appropriate treatment. Br Med J ; A human syndrome caused by immotile cilia.

How to cite this article. Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture.

Disquinesia ciliar: diagnóstico ultraestructural, evolución clínica y alternativas de tratamiento

Other search option s Alphabetical list. Ciliary disquinezia in healthy subjects, bronchiectasis and primary ciliary dyskinesia. Jorissen M, Bertrand B. Differential diagnosis The main differential diagnoses are cystic fibrosis see this termimmunodeficiency syndromes, gastroesophageal reflux, and Wegener’s Granulomatosis see this term.

Intraoperative diagnosis of primary ciliary dyskinesia. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.

Orphanet: Primary ciliary dyskinesia

Geremek M, Witt M. PCD is inherited in an autosomal recessive manner.

Berl Klin Wochenschr ; N Engl J Med The purpose of this paper is to review the clinical features, diagnosis and management of primary ciliary dyskinesia, including a diagnostic algorithm.


Male and female infertility problems in the immotile-cilia syndrome. Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: Summary and related texts.

Clinical expressions of immotile cilia syndrome. Late presentation of Kartagener’s syndrome. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

There was a problem providing the content you requested

Am J Med Genet ; Genetic counseling PCD is inherited in an autosomal recessive manner. Audiological assessment, hearing aids, and communication assistance should be offered where necessary. A human syndrome caused by immotile cilia. Management and treatment Regular clinical visits to monitor disease status are key.

Primary ciliary dyskinesia PCD is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease.

Is resection of bronchiectasis disquineia in patients with primary ciliary dyskinesia? Abnormal ciliary motility in association with abnormal ciliary ultrastructure.