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Primary Ciliary Dyskinesia 7



  • Written for pulmonary clinicians and scientists alike, Molecular Basis of Lung Disease: Insights from Rare Disorders is a comprehensive and invaluable nesource that sheds new light on the molecular mechanisms influencing the clinical presentation and[books.google.com]
  • Acronym CILD7 Synonyms ICS7 Immotile cilia syndrome 7 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Ciliopathies share many overlapping symptoms, often making it difficult to distinguish between them based on clinical presentation alone.[invitae.com]
  • In cilia from PCD cells, DNAH7 was undetectable, whereas intracellular DNAH7 was clearly present. These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of PCD.[ncbi.nlm.nih.gov]
  • Results The clinical characteristics of these children are presented in Table I. The age at presentation ranged from 1-84 days.[jpma.org.pk]
  • Started acapella this fall. Just had blood draw today for PCD panel. Also waiting to see if she qualifies for PCD study.[forums.cysticfibrosis.com]
  • Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.[invitae.com]
  • Since many PCD patients are likely to fall outside these parameters, the guidelines recommend that patients with a suggestive clinical history and low nNO are considered ‘highly likely’ if high-speed video microscopy is consistently abnormal or if high-speed[journals.rcni.com]
  • "Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum" [About a case of bronchiectasis in a patient avec situs inversus viscerum]. Berliner Klinische Wochenschrift (in German). 41 : 139–141. Kartagener, M (1933).[en.wikipedia.org]
Recurrent Sinusitis
  • The clinical consequences of the immotile cilia syndrome include chronic cough and expectoration, bronchiectasis, chronic rhinitis and nasal polyposis, chronic or recurrent sinusitis, and often an agenesis of the frontal sinuses.[ommbid.mhmedical.com]
  • Many children experience recurrent sinusitis. In the ears, mucociliary clearance in the eustachian tubes is responsible for clearing the middle ear. Children experience recurrent otitis media, glue ear and hearing loss.[journals.rcni.com]
  • sinusitis as well as chronic mucopurulent sputum production are common features.[jmg.bmj.com]
Recurrent Bacterial Infection
  • Recurrent bacterial infections in the lower airways and nasal passageways often lead to chronic or recurrent pneumonia, sinusitis, and otitis media.[invitae.com]
  • I'm going back and forth between being excited at getting a possible diagnosis finally and crying because my baby really is sick. I kept secretly hoping the doctor would tell me she was fine and I was just overly worried.[forums.cysticfibrosis.com]
  • Sensing the presence of unwanted elements, the lungs step up production of mucus to flush them out.[sites.google.com]
Hearing Impairment
  • Upper airway symptoms include rhinosinusitis and recurrent serous otitis media with hearing impairment [ 6 ]. Situs inversus is found in approximately 50% of cases and situs ambiguous is seen in approximately 10% of cases [ 6 , 7 ].[link.springer.com]
  • Individuals with PCD may also have situs inversus or situs ambiguous, headaches or hydrocephalus. All the causative genes identified thus far have roles in the development and function of cilia and flagella.[flystocks.bio.indiana.edu]
  • Symptoms of hydrocephaly include: Neurological Digestive and Urinary Movement Increased sleepiness/fatigue Nausea Altered pattern of walking (gait) Seizures Vomiting Poor coordination Headaches Loss of bladder control Generalized slowing of arm/leg movement[study.com]
  • Recommendations for surgical indications arising from this review include: nasal obstruction, polyposis, headache or facial pain, medialization of the lateral nasal wall and pulmonary exacerbations associated with sinusitis refractory to medical treatment[medcraveonline.com]
  • This year is extra exciting as we are celebrating 15 years of serving the PCD community.[eventbrite.com]
  • I'm going back and forth between being excited at getting a possible diagnosis finally and crying because my baby really is sick. I kept secretly hoping the doctor would tell me she was fine and I was just overly worried.[forums.cysticfibrosis.com]
  • A new exciting era is cheerfully rising from genetic studies that will result in improving the outcome of affected patients.[frontiersin.org]
  • A cytology brush is inserted into the nostril and agitated along the turbinate ( Figure 6 ). Sampling is uncomfortable but not painful, and takes only a few seconds.[journals.rcni.com]


  • Right now, there is no way to fix faulty cilia, so treatments address the symptoms of PCD and work to improve patients’ quality of life.[childrenscolorado.org]
  • On the basis of treatment, the market is categorized into drug treatment, radiotherapy, chemotherapy, others. On the basis of drug treatment, it is further segmented into clarithromycin, erythromycin and azithromycin, and others.[openpr.com]
  • […] suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional management and treatment[books.google.com]
  • Saline breathing treatments. Continued treatment for asthma- although at the moment the immunologist and pulmonologist think she may not even have asthma. The diagnosis today was preliminary.[forums.cysticfibrosis.com]


  • With modern care and abstinence from smoking, the prognosis in the immotile cilia syndrome is good. The immotile cilia syndrome clearly is a genetically heterogeneous disease, although its clinical profile is fairly uniform.[ommbid.mhmedical.com]
  • With the resulting meta-cohort it is possible to i) describe the clinical presentation, growth and lung function over the course of life, ii) evaluate diagnostic examinations and evaluate treatments in use, and iii) evaluate long-term prognosis.[ispm.unibe.ch]
  • Once bronchiectasis is established, prognosis worsens significantly.[patient.info]
  • Treatment and prognosis The natural progression of primary ciliary dyskinesia is relatively slow compared to cystic fibrosis for example, but nonetheless, up to 25% of patients eventually develop respiratory failure 4.[radiopaedia.org]
  • This should be avoided, since differences in pathophysiology, morbidity, and prognosis will likely lead to problems of treatment failure and lack of adherence.[eprints.soton.ac.uk]


  • In one retrospective study on children with bronchiectasis in Korea, primary PCD were documented in 4.3% of patients as an underlying etiology [2].[journals.viamedica.pl]
  • Non-cystic fibrosis bronchiectasis in children: clinical profile, etiology and outcome. Indian Pediatr (2015) 52:35–7. doi:10.1007/s13312-015-0563-8 PubMed Abstract CrossRef Full Text Google Scholar 34.[frontiersin.org]


  • Epidemiology, airway defense mechanisms, pathogenesis, imaging and genetic causes of bronchiectasis are discussed. Allergic bronchopulmonary aspergillosis is addressed, as well as non-tuberculous mycobacteria as a cause of bronchiectasis.[books.google.com]
  • Claudia Kuehni The Paediatric Respiratory Epidemiology Group studies the epidemiology of frequent and rare respiratory disorders during childhood and over the life course.[ispm.unibe.ch]
  • Epidemiology The incidence of the genetic disorder is 1 in 32,000 births [ 5 ]. However, higher incidences have been found in communities in which consanguineous marriages are common [ 6 ].[patient.info]
  • Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.[frontiersin.org]
Sex distribution
Age distribution


  • This should be avoided, since differences in pathophysiology, morbidity, and prognosis will likely lead to problems of treatment failure and lack of adherence.[eprints.soton.ac.uk]
  • Bush Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance Thorax, 57 (2002), pp. 586-589 [31.] B. Karadag, A.J. James, E. Gültekin, N.M. Wilson, A.[apcontinuada.com]
  • With the chance discovery of abnormalities of spermatozoal motility in such individuals 2, a pathophysiological basis for this disorder, labelled immotile cilia syndrome, became known 3.[jpma.org.pk]
  • At least 32 genes have been implicated in this condition. [8] Another gene associated with this condition is GAS2L2. [9] Pathophysiology [ edit ] CT image showing situs inversus.[en.wikipedia.org]
  • View Article : Google Scholar : PubMed/NCBI 7 Narang I, Ersu R, Wilson NM and Bush A: Nitric oxide in chronic airway inflammation in children: Diagnostic use and pathophysiological significance. Thorax. 57:586–589. 2002.[spandidos-publications.com]


  • Many genes participate in the construction of a cilium, and an error in any one of them will prevent the cilia from working properly. The inheritance in most cases is autosomal recessive.[ommbid.mhmedical.com]
  • According to the Centers for Disease Control and Prevention (2014), 9.3 million adults diagnosed with respiratory problems.[openpr.com]
  • Frustratingly for the patient, this can cause delays by weeks or even months, but preventing brushings which will not result in a conclusive outcome is time and cost effective for the NHS, and it prevents repeated sampling for the patient.[journals.rcni.com]
  • Aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections have been observed to slow lung-disease progression.[sites.google.com]
  • A number of measures to prevent respiratory tract infection and irritation should be considered.[slideshare.net]

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