scholarly journals Investigation of Primary Ciliary Dyskinesia in Children with Bronchiectasis in Iran

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
sohila alyasin ◽  
Behjat Maneshian ◽  
Shadi Niliyeh
Keyword(s):  
Nitric Oxide ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Genetic Disorder ◽  
Screening Tests ◽  
P Value ◽  
Genetic Studies ◽  
Rare Genetic Disorder ◽  
Exhaled No ◽  
Ciliary Dyskinesia

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder with signs and symptoms of recurrent chronic sinusitis, otitis media, pneumonia, bronchiectasis, male infertility, and situs inversus. The diagnosis of PCD has always been one of the more challenging issues that is mostly made through screening tests. These include the saccharin test and measurements of exhaled and nasal nitric oxide (NO) level, transmission electron microscopy (TEM) for evaluating ultrastructure of the cilia, high-speed video microscopy for evaluating ciliary beat patterns, immunofluorescent staining of the cilia in the biopsies, and genetic studies. As there had not been any epidemiological studies in Iran to detect the prevalence of PCD in the general population, the current research has been undertaken for the first time using screening tests of saccharin and measurement of the level of exhaled NO (fractional exhaled NO) to investigate the prevalence of PCD. Objectives: Primary ciliary dyskinesia (PCD) is a rare genetic disorder with the basis of an abnormal ciliary movement that causes chronic respiratory infections, bronchiectasis, infertility in males, and situs inversus. The significance of earlier diagnosis is for better care and prevention of complications. In this regard, we studied the PCD in children with bronchiectasis by saccharin test and measurement of exhaled nitric oxide. Methods: In this cross-sectional study, 31 patients with a definite diagnosis of bronchiectasis were evaluated regarding nitric oxide exhalatory measurement (FeNO) and a saccharin test for the confirmation of PCD diagnosis. The cut-off point of 20 ppb was considered as the normal level for FeNO test and the sensation of fewer than 60 minutes for the normal range of the saccharin test. Age, gender, and cardioposition were recorded for the patients. Results: Unlike the saccharine test, the measurement of exhaled nitric oxide had a high sensitivity (90.3% versus 54.8%) for the diagnosis of PCD. Cardioposition and gender did not have significant effects on the outcomes of exhaled NO and saccharin test (P-value > 0.05). Besides, the patients’ age did not affect FeNO measurement but was significantly higher among those with abnormal saccharin test (P-value = 0.028). Conclusions: The FeNO test had a remarkable sensitivity of 90.3% for the diagnosis of PCD, and its outcomes were not affected by age, gender, and cardioposition. The saccharin test had a sensitivity of 54.8% and was influenced by age, while not by gender or cardioposition. Although there are more accurate tests for diagnosis of PCD such as TEM and genetic studies, we decided to investigate PCD in children with bronchiectasis by performing two screening tests, NO and saccharin, because of several issues.

scholarly journals Diagnosis of primary ciliary dyskinesia

2015 ◽  
Vol 41 (3) ◽  
pp. 251-263 ◽  
Author(s):  
Mary Anne Kowal Olm ◽  
Elia Garcia Caldini ◽  
Thais Mauad
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Bacterial Colonization ◽  
Genetic Disorder ◽  
Signs And Symptoms ◽  
Screening Tests ◽  
Lower Airway ◽  
Airway Infections ◽  
Means Of Transmission ◽  
Respiratory Signs And Symptoms ◽  
Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

scholarly journals Kartagener Syndrome: A Rare Genetic Disorder

2009 ◽  
Vol 48 (173) ◽  
Author(s):  
Kunjan Shakya
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Kartagener Syndrome ◽  
Irreversible Damage ◽  
History Of ◽  
Ciliary Dyskinesia

Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure and/or function resulting in multisystem diseases of various severity. Clinical manifestations include lifelong, chronic upper and lower respiratory tract diseases secondary to ineffective mucociliary clearance. Early diagnosis and management of chest infections can prevent irreversible damage to lungs and prevent potential lifelong complications. This case report is on a patient who presented with long standing history of sinusitis, bronchiectasis and on examination situs inversus with dextrocardia.Key Words:bronchiectasis, dextrocardia, kartagener syndrome, primary ciliary dyskinesia, situs inversus

Use caution interpreting nasal nitric oxide: Overlap in primary ciliary dyskinesia and primary immunodeficiency

2021 ◽  
Author(s):  
Andrew T. Barber ◽  
Stephanie D. Davis ◽  
Hannah Boutros ◽  
Maimoona Zariwala ◽  
Michael R. Knowles ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Primary Immunodeficiency ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Nitric Oxide ◽  
Ciliary Dyskinesia

scholarly journals Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia

2011 ◽  
Vol 37 (3) ◽  
pp. 572-577 ◽  
Author(s):  
M. Pifferi ◽  
A. Bush ◽  
F. Maggi ◽  
A. Michelucci ◽  
V. Ricci ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Nitric Oxide Synthase ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Nitric Oxide ◽  
Oxide Synthase ◽  
Ciliary Dyskinesia

scholarly journals How to use nasal nitric oxide in a child with suspected primary ciliary dyskinesia

2017 ◽  
Vol 102 (6) ◽  
pp. 314-318 ◽  
Author(s):  
Kim Simpson ◽  
Malcolm Brodlie
Keyword(s):  
Nitric Oxide ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Utility ◽  
Diagnostic Testing ◽  
Older Children ◽  
Tidal Breathing ◽  
Closure Technique ◽  
Nasal Nitric Oxide ◽  
Ciliary Function ◽  
Ciliary Dyskinesia

Measuring nasal nitric oxide (nNO) is increasingly used as part of testing for primary ciliary dyskinesia (PCD). The diagnosis of PCD is often delayed until after bronchiectasis is established and auditory damage has occurred. It is important that all paediatricians are aware of clinical features that are suggestive of PCD that should prompt diagnostic testing. nNO levels are recognised to be low in people with PCD and results generated by static chemiluminescence analysers using velum closure technique in older children have good sensitivity and specificity. However, to conclusively rule PCD in or out, further tests of ciliary function are required and assessment of cilia ultrastructure, immunohistochemistry studies and genotyping may also be indicated. These tests are more complex, invasive and expensive than nNO. nNO is less well studied in younger children where tidal breathing measurements are required. Portable nitric oxide analysers are also increasingly used in practice. This paper discusses when to consider PCD as a possible diagnosis in a child along with the indications, physiological and technical background and clinical utility of nNO as a test for PCD in children.

Abstract 485: A Mouse Model of Primary Ciliary Dyskinesia Reveals High Frequencies of Heterotaxy and Complex Congenital Heart Defects

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Serena Y Tan ◽  
Linda Leatherbury ◽  
Julie Rosenthal ◽  
Xiao-Qing Zhao ◽  
Cecilia W Lo
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Congenital Heart ◽  
Heart Defects ◽  
Vena Cava ◽  
Situs Inversus Totalis ◽  
Complex Congenital Heart Disease ◽  
Ciliary Function ◽  
Situs Solitus ◽  
Ciliary Dyskinesia

Specification of left-right asymmetry is essential for formation of the four chamber heart and separate systemic and pulmonary circulation. Previous studies suggest monocilia at the embryonic node is required for left-right patterning. This patterning is perturbed in primary ciliary dyskinesia (PCD) where situs defects and bronchiectasis are observed, often due to ciliary dysfunction arising from dynein mutations. Most PCD patients exhibit situs solitus or situs inversus totalis, but heterotaxy with complex congenital heart disease (CHD) appears to be rare, reported as 6%. We recovered a mouse mutation in dynein Mdnah5 that disrupts ciliary function. Homozygote mutants exhibit situs phenotypes consistent with PCD in humans. To assess the frequency of CHD associated with PCD, we harvested16 litters of embryos. All wildtype and heterozygous offspring (89) showed normal body situs. Of the 21 (19%) homozygous mutants obtained, 6 had situs solitus, 7 situs inversus and 8 heterotaxy, with heterotaxy being any situs deviation in the cardiac, pulmonary or visceral anatomy. Of the heterotaxic embryos, 3 had levo and 5 dextrocardia. Histology and 3D reconstruction showed 7 of the heterotaxy embryos had complex CHD, which included atrial isomerism, superior-inferior ventricles (Figure ), malposition of the great arteries, AV cushion defects, and azygous continuation of the inferior vena cava. These results show a much higher frequency of heterotaxy and complex CHD than previously reported for PCD (38% vs. 6%), suggesting PCD patients should be screened for CHD. The high incidence of CHD associated with PCD indicates ciliary function may have other roles in cardiovascular patterning.

scholarly journals Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

2019 ◽  
Vol 57 (4) ◽  
pp. 237-244 ◽  
Author(s):  
Sylvain Blanchon ◽  
Marie Legendre ◽  
Mathieu Bottier ◽  
Aline Tamalet ◽  
Guy Montantin ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Genetic Disorder ◽  
Beat Frequency ◽  
Ciliary Beat Frequency ◽  
Central Complex ◽  
Ciliary Beating ◽  
Recovery Stroke ◽  
Biallelic Mutations ◽  
Ciliary Dyskinesia

BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific and quantitative ciliary beating anomalies, according to the ultrastructural phenotype.MethodsWe prospectively included 75 patients with PCD exhibiting the main five ultrastructural phenotypes (n=15/group), screened all corresponding PCD genes and measured quantitative beating parameters by high-speed video-microscopy (HSV).ResultsSixty-eight (91%) patients carried biallelic mutations. Combined outer/inner dynein arms (ODA/IDA) defect induces total ciliary immotility, regardless of the gene involved. ODA defect induces a residual beating with dramatically low ciliary beat frequency (CBF) related to increased recovery stroke and pause durations, especially in case of DNAI1 mutations. IDA defect with microtubular disorganisation induces a low percentage of beating cilia with decreased beating angle and, in case of CCDC39 mutations, a relatively conserved mean CBF with a high maximal CBF. Central complex defect induces nearly normal beating parameters, regardless of the gene involved, and a gyrating motion in a minority of ciliated edges, especially in case of RSPH1 mutations. PCD with normal ultrastructure exhibits heterogeneous HSV values, but mostly an increased CBF with an extremely high maximal CBF.ConclusionQuantitative HSV analysis in PCD objectives beating anomalies associated with specific ciliary ultrastructures and genotypes. It represents a promising approach to guide the molecular analyses towards the best candidate gene(s) to be analysed or to assess the pathogenicity of the numerous sequence variants identified by next-generation-sequencing.

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