scholarly journals PRIMARY CILIARY DYSKINESIA IMMOTILE CILIA SYNDROME

2019 ◽  
Vol 20 (4) ◽  
pp. 237-245
Author(s):  
Yulia A. Tsareva ◽  
N. I. Zryachkin ◽  
M. A. Kuznetsova
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Hereditary Disease ◽  
Screening Tests ◽  
Cell Culture Study ◽  
Immotile Cilia ◽  
Transmission Electron ◽  
Tract Infections ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease characterized by recurrent respiratory tract infections, decreased fertility, and situs inversus in 50% of cases. The core of the syndrome is the disturbance of mucociliary clearance due to the lack or defect of cilia leading to their partial or complete immobility. There are some tests for diagnostic PCD with specific benefits and limitations, but there is still no diagnostic «gold standard» yet. Identification of nitric oxide and nasal clearance of dye or saccharin are widely used as screening tests. Clearance of 99Tc-labeled colloidal albumin, high-speed video microscopy and transmission electron microscopy, the cell culture study and genetic testing are methods for the verification. Late identification of PCD is reported worldwide. There are no methods to control the development of PCD complications. The important role is played by the long-term and constant follow up (including spirometry, evaluation of pulmonary clearance and X-ray scanning).

scholarly journals Accuracy of diagnostic testing in primary ciliary dyskinesia

2015 ◽  
Vol 47 (3) ◽  
pp. 837-848 ◽  
Author(s):  
Claire L. Jackson ◽  
Laura Behan ◽  
Samuel A. Collins ◽  
Patricia M. Goggin ◽  
Elizabeth C. Adam ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Diagnostic Testing ◽  
Standard Test ◽  
Diagnostic Process ◽  
Published Data ◽  
Transmission Electron ◽  
Repeated Sampling ◽  
Ciliary Dyskinesia

Diagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests.HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL·min−1 cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific.In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (≤30 nL·min−1) contributes well to the diagnostic process. In isolation nNO screening at this cut-off would miss ∼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority.

scholarly journals Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries

2017 ◽  
Vol 26 (143) ◽  
pp. 160058 ◽  
Author(s):  
Nisreen Rumman ◽  
Claire Jackson ◽  
Samuel Collins ◽  
Patricia Goggin ◽  
Janice Coles ◽  
...  
Keyword(s):  
Diagnostic Tests ◽  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Care Setting ◽  
Nasal Nitric Oxide ◽  
Ciliary Function ◽  
Resource Limited ◽  
Transmission Electron ◽  
Sophisticated Equipment ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.

scholarly journals Primary ciliary dyskinesia in a Staffordshire bull terrier : clinical communication

2004 ◽  
Vol 75 (3) ◽  
Author(s):  
M. De Scally ◽  
R.G. Lobetti ◽  
E. Van Wilpe
Keyword(s):  
Cross Sections ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Communication ◽  
First Case ◽  
Transmission Electron ◽  
Radial Spokes ◽  
History Of ◽  
Tract Infections ◽  
Ciliary Dyskinesia ◽  
Recurrent Respiratory Tract Infections

Primary ciliary dyskinesia (PCD) is a diverse group of inherited structural and functional abnormalities of the respiratory and other cilia, which results in recurrent respiratory tract infections. Primary ciliary dyskinesia was diagnosed in a 14-week old Staffordshire bull terrier that had a history of respiratory disease from 7 weeks of age. Pneumonia was diagnosed on thoracic radiographs and transtracheal aspirate. Transmission electron microscopy of the bronchi and trachea indicated the presence of both primary and secondary ciliary dyskinesia. The most prominent primary defects consisted of absent inner dyneim arms, absent radial spokes and absence of the central microtubules. These defects accounted for 62 % of the total number of cross-sections screened. Non-specific ciliary abnormalities encountered most often were compound cilia, swollen cilia, addition / deletion of peripheral doublets and disorganised axonemes (26 %). To the authors' knowledge, this is the first case of PCD described in the Staffordshire bull terrier and the first report of PCD in South Africa.

scholarly journals Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy

2017 ◽  
Vol 16 (4) ◽  
pp. 954 ◽  
Author(s):  
Hamouda Samia ◽  
Boussetta Khadija ◽  
Hamzaoui Agnes ◽  
Khalsi Fatma ◽  
Trabelsi Ines ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Primary Ciliary Dyskinesia ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Transmission Electron ◽  
Ciliary Dyskinesia

scholarly journals Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

2014 ◽  
Vol 44 (6) ◽  
pp. 1579-1588 ◽  
Author(s):  
Johanna Raidt ◽  
Julia Wallmeier ◽  
Rim Hjeij ◽  
Jörg Große Onnebrink ◽  
Petra Pennekamp ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Genetic Disorder ◽  
Beat Frequency ◽  
Detailed Knowledge ◽  
Beat Pattern ◽  
Biallelic Mutations ◽  
Tract Infections ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spectrum of HVMA findings in PCD from grossly abnormal to very subtle. The objective of this study was to describe the diversity of HVMA findings in genetically confirmed PCD individuals.HVMA was performed as part of the routine work-up of individuals with suspected PCD. Subsequent molecular analysis identified biallelic mutations in the PCD-related genes of 66 individuals. 1072 videos of these subjects were assessed for correlation with the genotype.Biallelic mutations (19 novel) were found in 17 genes: DNAI1, DNAI2, DNAH5, DNAH11, CCDC103, ARMC4, KTU/DNAAF2, LRRC50/DNAAF1, LRRC6, DYX1C1, ZMYND10, CCDC39, CCDC40, CCDC164, HYDIN, RSPH4A and RSPH1. Ciliary beat pattern variations correlated well with the genetic findings, allowing the classification of typical HVMA findings for different genetic groups. In contrast, analysis of ciliary beat frequency did not result in additional diagnostic impact.In conclusion, this study provides detailed knowledge about the diversity of HVMA findings in PCD and may therefore be seen as a guide to the improvement of PCD diagnostics.

scholarly journals Primary ciliary dyskinesia: state of the problem and prospects

2021 ◽  
pp. 276-285
Author(s):  
Andrey A. Novak ◽  
Yuriy L. Mizernitskiy
Keyword(s):  
Respiratory Tract ◽  
Primary Ciliary Dyskinesia ◽  
Electron Microscopic Examination ◽  
Hereditary Disease ◽  
Medical Community ◽  
Electron Microscopic ◽  
Treatment Protocols ◽  
Immotile Cilia ◽  
Genetically Determined ◽  
Ciliary Dyskinesia

This review article provides an up-to-date understanding of primary ciliary dyskinesia (immotile-cilia syndrome) and its particular variant, Cartagener syndrome, a genetically determined pathology leading to chronic inflammatory lesions of the respiratory tract, hearing organs, and impaired fertile function. This orphan disease is not well known to the general medical community. Primary ciliary dyskinesia is a rare hereditary disease of the group of ciliopathies that is based on a genetically determined defect in the ultrastructure of the cilia of the respiratory tract epithelium and similar structures, leading to impaired motor function. Various step-by-step algorithms have been proposed to verify the diagnosis, the obligatory components of which are assessment of the motor ability of the cilia of the atopic epithelium, nasal nitric oxide (nNO) level, electron microscopic examination of a bronchial mucosal biopsy specimen, and genetic examination. There is no gold standard for diagnosis of primary ciliary dyskinesia. Diagnostic search in patients should be complex and consist of certain stages. Currently, therapeutic strategies for primary ciliary dyskinesia are based on approved clinical guidelines. In many countries, the therapy of patients with primary ciliary dyskinesia is based on treatment protocols for patients with cystic fibrosis, despite the obvious differences in these diseases. The main goal of therapy is adequate airway clearance, control and prevention of infectious diseases, and elimination of potential airway exposure to various types of pollutants, including tobacco smoke. The article describes the clinic, characteristic symptoms of the disease, its prevalence and genetic aspects, discusses the problems of diagnosis, treatment, prognosis and monitoring of these children, as well as the need for a national register of patients with this pathology.

scholarly journals New Diagnostic Methods and Treatment Recommendations in Primary Ciliary Dyskinesia

2020 ◽  
pp. 42-49
Author(s):  
Nagihan Emiralioğlu
Keyword(s):  
Diagnostic Tests ◽  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Electron Tomography ◽  
Diagnostic Methods ◽  
European Respiratory Society ◽  
Transmission Electron ◽  
Nutritional Advice ◽  
Organ Laterality ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and clinically characterized by neonatal respiratory distress, organ laterality defects, persistent rhinosinusitis, chronic bronchitis, and eventually bronchiectasis. Currently, there is no single “gold standard” diagnostic test for PCD. PICADAR (Primary Ciliary Dyskinesia Rule) score is a guide to decide for further evaluation of diagnostic tests in PCD. European Respiratory Society (ERS) and American Thoracic Society (ATS) recommend diagnostic tests, including nasal nitric oxide (nNO), high-speed video analysis (HSVMA), transmission electron microscopy (TEM) and genetic testing. Cryo-electron tomography and immunofluorescence methods are new techniques recently performed by specialized centers and needs to be improved. Age at diagnosis for PCD changes according to awareness of disease and available diagnostic tests in different centers. Regular follow-up and multidisciplinary approach is important in the management of PCD. The main aim of the treatment is to prevent pulmonary exacerbations and slow the progression of the disease since there are no treatment approaches to correct the underlying cilia structure and its functions in PCD. Although, there are not enough randomized controlled trials for the treatment of PCD, recent treatments are usually based on to improve the mucociliary clearance. Early diagnosis with multidisciplinary management and nutritional advice could improve growth and delay disease progression leading to bronchiectasis and lung function impairment in PCD

scholarly journals Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

Diagnostics ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 129
Author(s):  
Rosana Blanco-Máñez ◽  
Miguel Armengot-Carceller ◽  
Teresa Jaijo ◽  
Francisco Vera-Sempere
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Molecular Genetic ◽  
Transmission Electron ◽  
Beat Pattern ◽  
Significant Difference ◽  
Unknown Significance ◽  
Genetic Techniques ◽  
Ciliary Dyskinesia ◽  
Ciliary Beat

Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission electron microscopy (TEM). Historically, TEM was considered to be the “gold standard” for the diagnosis of PCD. However, with the advances in molecular genetic techniques, an increasing number of PCD variants show normal ultrastructure and cannot be diagnosed by TEM. During ultrastructural assessment of ciliary biopsies of patients with suspicion of PCD, we observed an axonemal defect not previously described that affects peripheral doublets tilting. To further characterize this defect of unknown significance, we studied the ciliary axonemes by TEM from both PCD-confirmed patients and patients with other sino-pulmonary diseases. We detected peripheral doublets tilting in all the PCD patients, without any significant difference in the distribution of ciliary beat pattern or mutated gene. This defect was also present in those patients with normal ultrastructure PCD subtypes. We believe that the performance of axonemal asymmetry analysis would be helpful to enhance diagnosis of PCD.

scholarly journals Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report

Breathe ◽  
2017 ◽  
Vol 13 (3) ◽  
pp. 166-178 ◽  
Author(s):  
Claudia E. Kuehni ◽  
Jane S. Lucas
Keyword(s):  
Secondary Care ◽  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Task Force ◽  
Diagnostic Testing ◽  
List Type ◽  
European Respiratory Society ◽  
Term Infants ◽  
Task Force Report ◽  
Ciliary Dyskinesia

Key pointsPrimary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no “gold standard” diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission.The ERS Task Force recommends that patients should be investigated in a specialist PCD centre with access to a range of complementary tests: nasal nitric oxide, high-speed video microscopy analysis and transmission electron microscopy. Additional tests including immunofluorescence labelling of ciliary proteins and genetic testing may also help determine the diagnosis.Educational aimsThis article is intended for primary and secondary care physicians interested in primary ciliary dyskinesia (PCD), i.e. those who identify patients for testing, and those involved in diagnosing and managing PCD patients. It aims: to inform readers about the new European Respiratory Society Task Force Guidelines for diagnosing patients with PCDto enable primary and secondary care physicians to: identify patients who need diagnostic testing; understand the diagnostic tests that their patients will undergo, the results of the tests and their limitations; and ensure that appropriate care is subsequently delivered.

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