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The European Respiratory Journal Oct 2016Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed... (Meta-Analysis)
Meta-Analysis Review
Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratified by age and sex.We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity.We included 52 studies describing a total of 1970 patients (range 10-168 per study). We found a prevalence of 5% for congenital heart disease. For the rest of reported characteristics, we found considerable heterogeneity (I range 68-93.8%) when calculating the weighted mean prevalence. Even after taking into account the explanatory factors, the largest part of the between-studies variance in symptom prevalence remained unexplained for all symptoms. Sensitivity analysis including only studies with test-proven diagnosis showed similar results in prevalence and heterogeneity.Large differences in study design, selection of study populations and definition of symptoms could explain the heterogeneity in symptom prevalence. To better characterise the disease, we need larger, multicentre, multidisciplinary, prospective studies that include all age groups, use uniform diagnostics and report on all symptoms.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Kartagener Syndrome; Male; Middle Aged; Phenotype; Prevalence; Prospective Studies; Regression Analysis; Respiration Disorders; Retrospective Studies; Situs Inversus; Treatment Outcome; Young Adult
PubMed: 27492829
DOI: 10.1183/13993003.00736-2016 -
Rhode Island Medical Journal (2013) Jun 2021Dextrocardia is a rare congenital disorder characterized by an anatomically flipped heart that is positioned in the right instead of the left side of the thorax....
Dextrocardia is a rare congenital disorder characterized by an anatomically flipped heart that is positioned in the right instead of the left side of the thorax. Anatomical variants, such as this, are vital to be aware of as they can alter patient monitoring and management. In this case report, we describe a patient with dextrocardia whose anatomy affected intraoperative monitoring while undergoing a successful aortic valve replacement surgery.
Topics: Aortic Valve; Dextrocardia; Heart Valve Prosthesis; Humans
PubMed: 34044436
DOI: No ID Found -
Archives of Disease in Childhood Nov 2002
Topics: Child; Diagnostic Errors; Humans; Kartagener Syndrome; Medical History Taking; Referral and Consultation
PubMed: 12390901
DOI: 10.1136/adc.87.5.363 -
Proceedings of the American Thoracic... Sep 2011Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic... (Review)
Review
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. This review summarizes the current state of knowledge of respiratory tract disease in individuals with PCD and highlights the challenges in identifying and quantifying lung disease in very young children with PCD. No specific therapies are available to correct ciliary dysfunction in PCD. Treatment is not evidence based, and recommendations are largely extrapolated from cystic fibrosis and other conditions with impaired mucociliary clearance. There is a pressing need to develop and validate outcome measures, including patient-reported outcomes, that could be used to evaluate potential therapies in PCD. This review concludes with recommendations for clinical endpoints and outcome measures and a prioritized list of treatments to study in PCD clinical trials.
Topics: Child; Chronic Disease; Disease Management; Evidence-Based Medicine; Humans; Kartagener Syndrome; Lung Diseases; Nasal Cavity; Nitric Oxide; Otitis Media with Effusion; Otorhinolaryngologic Diseases; Respiratory Function Tests; Respiratory Tract Infections; Rhinitis; Sinusitis; Tomography, X-Ray Computed
PubMed: 21926396
DOI: 10.1513/pats.201103-024SD -
Pediatric Research Jan 2014Abnormal ciliary axonemal structure and function are linked to the growing class of genetic disorders collectively known as ciliopathies, and our understanding of the... (Review)
Review
Abnormal ciliary axonemal structure and function are linked to the growing class of genetic disorders collectively known as ciliopathies, and our understanding of the complex genetics and functional phenotypes of these conditions has rapidly expanded. While progress in genetics and biology has uncovered numerous cilia-related syndromes, primary ciliary dyskinesia (PCD) remains the sole genetic disorder of motile cilia dysfunction. The first disease-causing mutation was described just 13 y ago, and since that time, the pace of gene discovery has quickened. These mutations separate into genes that encode axonemal motor proteins, structural and regulatory elements, and cytoplasmic proteins that are involved in assembly and preassembly of ciliary elements. These findings have yielded novel insights into the processes involved in ciliary assembly, structure, and function, which will allow us to better understand the clinical manifestations of PCD. Moreover, advances in techniques for genetic screening and sequencing are improving diagnostic approaches. In this article, we will describe the structure, function, and emerging genetics of respiratory cilia, review the genotype-phenotype relationships of motor ciliopathies, and explore the implications of recent discoveries for diagnostic testing for PCD.
Topics: Animals; Cilia; Genetic Predisposition to Disease; Genetic Testing; Humans; Kartagener Syndrome; Mutation; Phenotype; Predictive Value of Tests; Prognosis; Risk Factors
PubMed: 24192704
DOI: 10.1038/pr.2013.200 -
Auris, Nasus, Larynx Jun 2024Primary ciliary dyskinesia (PCD) is a relatively rare genetic disorder that affects approximately 1 in 20,000 people. Approximately 50 genes are currently known to cause... (Review)
Review
OBJECTIVE
Primary ciliary dyskinesia (PCD) is a relatively rare genetic disorder that affects approximately 1 in 20,000 people. Approximately 50 genes are currently known to cause PCD. In light of differences in causative genes and the medical system in Japan compared with other countries, a practical guide was needed for the diagnosis and management of Japanese PCD patients.
METHODS
An ad hoc academic committee was organized under the Japanese Rhinologic Society to produce a practical guide, with participation by committee members from several academic societies in Japan. The practical guide including diagnostic criteria for PCD was approved by the Japanese Rhinologic Society, Japanese Society of Otolaryngology-Head and Neck Surgery, Japanese Respiratory Society, and Japanese Society of Pediatric Pulmonology.
RESULTS
The diagnostic criteria for PCD consist of six clinical features, six laboratory findings, differential diagnosis, and genetic testing. The diagnosis of PCD is categorized as definite, probable, or possible PCD based on a combination of the four items above. Diagnosis of definite PCD requires exclusion of cystic fibrosis and primary immunodeficiency, at least one of the six clinical features, and a positive result for at least one of the following: (1) Class 1 defect on electron microscopy of cilia, (2) pathogenic or likely pathogenic variants in a PCD-related gene, or (3) impairment of ciliary motility that can be repaired by correcting the causative gene variants in iPS cells established from the patient's peripheral blood cells.
CONCLUSION
This practical guide provides clinicians with useful information for the diagnosis and management of PCD in Japan.
Topics: Humans; Kartagener Syndrome; Genetic Testing; Diagnosis, Differential; Cilia; Japan; Axonemal Dyneins; Proteins
PubMed: 38537559
DOI: 10.1016/j.anl.2024.02.001 -
Thorax Feb 2018
Topics: Ciliary Motility Disorders; Humans; Kartagener Syndrome
PubMed: 29133352
DOI: 10.1136/thoraxjnl-2017-210776 -
Journal of Veterinary Science Jul 2023Siewert-Kartagener's syndrome, a type of primary ciliary dyskinesia, is a complex disease comprising situs inversus, rhinosinusitis, and bronchiectasis. Situs inversus...
Siewert-Kartagener's syndrome, a type of primary ciliary dyskinesia, is a complex disease comprising situs inversus, rhinosinusitis, and bronchiectasis. Situs inversus totalis is a condition in which all organs in the thoracic and abdominal cavities are reversed. Furthermore, primary ciliary dyskinesia, an autosomal genetic disease, may coexist with situs inversus totalis. Reports on Siewert-Kartagener's syndrome in veterinary medicine are limited. We report a rare case of primary ciliary dyskinesia with Siewert-Kartagener's syndrome in a dog, concurrently infected with canine distemper virus and type-2 adenovirus. This case highlights that situs inversus totalis can cause primary ciliary dyskinesia, and concurrent infections are possible.
Topics: Dogs; Animals; Kartagener Syndrome; Situs Inversus; Dog Diseases
PubMed: 37532300
DOI: 10.4142/jvs.23029 -
Pediatric Pulmonology Jan 2022Nasal nitric oxide (nNO) measurement is recommended as a first line screening test for primary ciliary dyskinesia (PCD). While reliable velum- and non-velum-closure...
BACKGROUND
Nasal nitric oxide (nNO) measurement is recommended as a first line screening test for primary ciliary dyskinesia (PCD). While reliable velum- and non-velum-closure techniques exist for preschool children and older individuals, no data are available for neonates.
AIMS
To determine feasibility of nNO screening and nNO concentration in healthy newborns in the first week of life.
METHODS
Nasal NO was analyzed in tidal breathing during natural sleep using a CLD-88 sp NO analyzer (chemoluminescence sensor) and a NIOX MINO (electrochemical sensor). Test success and nNO concentration were determined and compared between the two devices.
RESULTS
Nasal NO was measured in 62 healthy neonates within the first week of life. Feasibility of nNO measurement was 100% for at least one nostril and 85.5% for both nostrils using the chemoluminescence device, but significantly lower with the electrochemical device (85.5% and 53.2%; p < .001). Median nNO concentration was 38 ppb (interquartile range, 27-55; range, 9-100) with the ECOMEDICS device and 23 (15-33, 8-59) with the NIOX MINO (p < .001), with a trend towards higher values for older subjects. None of the subjects exceeded nNO levels of 100 ppb.
CONCLUSION
Measurement of nNO using a chemoluminescence device is highly feasible in newborns during natural sleep. However, nNO levels are considerably lower compared to the published data for older individuals and in the range of a PCD reference group of infants between 4 and 8 weeks of age, potentially resulting in a great overlap with subjects with PCD in this age group. Therefore, screening for PCD using nasal NO might not be useful in the first week of life. Upon clinical suspicion, other diagnostic tests such as high-speed video analysis of the cilia should be applied.
Topics: Breath Tests; Child, Preschool; Feasibility Studies; Humans; Infant; Infant, Newborn; Kartagener Syndrome; Nitric Oxide; Nose
PubMed: 34570949
DOI: 10.1002/ppul.25702 -
Tidsskrift For Den Norske Laegeforening... Jan 2016Primary ciliary dyskinesia (PCD) is a rare disease, but causes symptoms that resemble far more common respiratory diseases. Late diagnosis is common, when damage to the... (Review)
Review
Primary ciliary dyskinesia (PCD) is a rare disease, but causes symptoms that resemble far more common respiratory diseases. Late diagnosis is common, when damage to the respiratory system has already occurred. This article aims to elucidate the condition and the diagnostic methods available. The article is based on literature searches in PubMed and the author's own experience of patient treatment and clinical research.
Topics: Cilia; Humans; Kartagener Syndrome
PubMed: 26813817
DOI: 10.4045/tidsskr.15.0390