Primary ciliary dyskinesia , also known as immotile cilia syndrome , is the result of a congenital defect in the ultrastructure of cilia that renders them incapable of normal movement. It is associated with a number of anatomic and functional abnormalities. Primary ciliary dyskinesia is caused by a heterogeneous group of genetic abnormalities which are inherited in an autosomal recessive pattern. The incidence variably estimated at ,, 4,5.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Prevalence is difficult to determine.
Affected patients develop signs of PCD at birth or within the first few months of life. However, owing to the diagnostic challenges, some cases of PCD are not diagnosed until the adulthood.
Most full-term neonates have respiratory distress with tachypnea infant acute respiratory distress syndrome and usually require supplemental oxygen for days, some for weeks. The usual findings in infants and children are daily rhinitis, and daily year-round wet cough occurring soon after birth, with associated recurrent or chronic bacterial infections of the lower airways.
Chronic otitis media is common, sometimes with temporary or permanent hearing loss and impaired speech development. Most patients have recurrent sinus infections. Bronchiectasis develops in an age-dependent manner, and is nearly universal in adults. Almost all males with PCD are infertile, due to dysmotility of spermatozoa, although a few have normal sperm motility. Reduced fertility or a history of ectopic pregnancies has been reported in affected women. A very rare association of X-linked PCD with either retinitis pigmentosa or intellectual deficiency has been reported.
Pulmonary disease in PCD is related to defects in lung defense mechanisms due to abnormal ciliary structure and function with impaired mucociliary clearance. Mutations in around 46 different genes throughout the genome have been found to be causative. A third of currently recognized patients do not have mutations in these genes. Diagnosis is based on the characteristic clinical signs. Methods include molecular genetic testing identifying biallelic pathogenic variants or hemizygous in males for X-linked genes, or mono-allelic for autosomal dominant trait in one of the causative genes, as well as transmission electron microscopy identifying specific ciliary ultrastructural defects in biopsy samples.
Other supportive tests include measurement of nasal nitric oxide in upper airways in patients aged of 5 years or more that tends to be low in PCD, after cystic fibrosis link has been ruled out, high-speed videomicroscopy to assess cilia waveform and beat frequency, immunofluorescent staining to study ciliary structure, and mucociliary clearance analysis to assess impairment. The main differential diagnoses are cystic fibrosis, immunodeficiency syndromes and gastroesophageal reflux.
Additionally, PCD has been noted in patients with Cri du chat syndrome due to the common locus on chromosome 5p. If disease-causing mutations are known in a family, prenatal diagnosis can be performed using molecular analysis. PCD is usually inherited in an autosomal recessive manner. Some cases with autosomal dominant and X-linked trait have been observed. Genetic counseling should be provided to affected families. Regular clinical visits to monitor disease status are key.
Aggressive treatment is recommended to improve mucus clearance. Antibiotic therapy is required and routine immunization is advised. Sinus disease can be treated with nasal steroids and nasal lavage.
Polyps may require surgical treatment. Audiological assessment, hearing aids, and communication assistance should be offered where necessary. Patients with end-stage lung disease are candidates for lung transplantation. The prognosis depends on timely diagnosis and appropriate treatment. Life expectancy is likely somewhat shortened, although quantitative estimates are not currently available. Other search option s Alphabetical list. Suggest an update. Summary and related texts.
Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease.
Clinical description Affected patients develop signs of PCD at birth or within the first few months of life. Etiology Pulmonary disease in PCD is related to defects in lung defense mechanisms due to abnormal ciliary structure and function with impaired mucociliary clearance. Diagnostic methods Diagnosis is based on the characteristic clinical signs. Differential diagnosis The main differential diagnoses are cystic fibrosis, immunodeficiency syndromes and gastroesophageal reflux.
Antenatal diagnosis If disease-causing mutations are known in a family, prenatal diagnosis can be performed using molecular analysis. Genetic counseling PCD is usually inherited in an autosomal recessive manner. Management and treatment Regular clinical visits to monitor disease status are key.
Prognosis The prognosis depends on timely diagnosis and appropriate treatment. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 3 Gene s 47 Disability Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests 51 Patient organisations 38 Orphan designation s and orphan drug s 1.
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2016, Número 1-2
Isolation of candidate genes for apomictic development in buffelgrass Pennisetum ciliare. Asexual reproduction through seeds, or apomixis, is a process that holds much promise for agricultural advances. However, the molecular mechanisms underlying apomixis are currently poorly understood. To identify genes related to female gametophyte development in apomictic ovaries of buffelgrass Pennisetum ciliare L.
Discinesia ciliar primaria. Ciliopatías
Clinical and ultrastructural features of ciliary dyskinesia. Santiago de Chile. Background: Ciliary dyskinesia CD is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Patients and Methods: Retrospective review of medical records and electron microscopy findings of 33 patients aged 1 to 21 years, 14 females with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done.
Hogg C. Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it. Paediatr Respir Rev ; 10 2 : Modeling human disease in humans: the ciliopathies. Cell ; 1 :