Kartagener’s Syndrome: A Rare Case

2020 ◽  
Vol 40 (2) ◽  
pp. 130-135
Author(s):  
Richa ◽  
Pankaj Abrol ◽  
Shashi Sharma ◽  
Sakshee Madan
Keyword(s):  
Situs Inversus ◽  
High Speed ◽  
Genetic Disorder ◽  
Female Child ◽  
Kartagener's Syndrome ◽  
Microscopy Analysis ◽  
Midclavicular Line ◽  
Classical Triad ◽  
Apex Beat ◽  
Ciliary Dyskinesia

Kartagener’s syndrome, an autosomal recessively inherited disorder, is a subgroup of primary ciliary dyskinesias. This genetic disorder manifests from early life which distinguishes it from acquired mucociliary disorders. Kartagener’s syndrome presents as a classical triad of situs inversus, sinusitis and bronchiectasis occurring majorly due to impaired ciliary motility. Here we report a case of a four year old female child who presented to us with repeated episodes of cough and intermittent breathlessness for the past three years. Clinical examination revealed bilateral coarse basal crepitations and apex beat on right fifth intercostal space in the midclavicular line. A thorough investigation revealed situs inversus, chronic sinusitis, and bilateral bronchiectasis. The patient underwent a high-speed video microscopy analysis which was suggestive of primary ciliary dyskinesia. Considering these findings, the patient was diagnosed as a case of Kartagener’s syndrome.

scholarly journals Kartagener Syndrome: Congenital Variety of Primary Ciliary Dyskinesia with Infertility

2010 ◽  
Vol 1 (1) ◽  
pp. 16-17
Author(s):  
Amit Nandan Dhar Dwivedi
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Chronic Sinusitis ◽  
The United States ◽  
Medical Sciences ◽  
Immotile Cilia ◽  
Kartagener's Syndrome ◽  
P 16 ◽  
Classical Triad ◽  
Ciliary Dyskinesia

We report a rare case of Kartagener's Syndrome, congenital variety of Primary Ciliary Dyskinesia (PCD) with infertility. The patient exhibited the classical triad of which was elucidated by Manes Kartagener in 1933. The frequency of KS in the United States is 1 case per 32,000 live births. Situs inversus occurs randomly in half the patients with PCD; therefore, for every patient with KS, another patient has PCD but not situs inversus.  Current nomenclature classifies all congenital ciliary disorders as PCDs in order to differentiate them from acquired types. KS is part of the larger group of disorders referred to as PCDs. Approximately one half of patients with PCD have situs inversus and, thus, are classified as having KS.Keywords: Immotile cilia syndrome; Primary ciliary dyskinesia (PCD); Situs inversus; Chronic sinusitis; Bronchiectasis.DOI: 10.3126/ajms.v1i1.2605Asian Journal of Medical Sciences Vol.1(1) 2010 p.16-17

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.

scholarly journals Situs Inversus Totalisand Primary Ciliary Dyskinesia (Kartagener's Syndrome) in a Horse

2008 ◽  
Vol 22 (2) ◽  
pp. 491-494 ◽  
Author(s):  
K. Palmers ◽  
G. van Loon ◽  
M. Jorissen ◽  
F. Verdonck ◽  
K. Chiers ◽  
...  
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia

scholarly journals Kartagener’s Syndrome Presenting As Bilateral Recurrent Nasal Polyposis In A Young Boy

2018 ◽  
Vol 08 (04) ◽  
pp. 274-277
Author(s):  
Zeba Ahmed ◽  
Warda Waseem ◽  
Uroosa Saman
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Nasal Polyposis ◽  
Chronic Sinusitis ◽  
Correct Diagnosis ◽  
Congenital Disease ◽  
Kartagener Syndrome ◽  
Kartagener's Syndrome ◽  
Ciliary Dyskinesia ◽  
Recurrent Nasal Polyposis

Kartagener's syndrome is a very rare congenital disease consists of a classic triad, sinusitis, situs inversus and bronchiectasis. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and Kartagener syndrome. We are presenting a case of Kartagener’s syndrome in a 10-year-old boy presented with chronic sinusitis leading to bilateral multiple nasal polyposis. He also had situs inversus and chronic bronchiectasis. He had undergone surgery two years back for nasal polyposis but now again presenting as recurrent nasal polyposis. In order to prevent the dreadful complications correct diagnosis in early life is very important in such patients.

scholarly journals Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xinyue Zhao ◽  
Chun Bian ◽  
Keqiang Liu ◽  
Wenshuai Xu ◽  
Yaping Liu ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Clinical Characteristics ◽  
Genetic Disorder ◽  
Copy Number Variations ◽  
Pathogenic Mutations ◽  
Chinese Origin ◽  
Whole Exome ◽  
Low Pass ◽  
Ciliary Dyskinesia

Abstract Background Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strategy combining assessment of typical symptoms with whole-exome sequencing (WES) and/or low-pass whole-genome sequencing (WGS) as an unbiased detection tool to identify known pathogenic mutations, novel variations, and copy number variations. Results A total of 26 individuals of Chinese origin with a confirmed PCD diagnosis aged 13 to 61 years (median age, 24.5 years) were included. Biallelic pathogenic mutations were identified in 19 of the 26 patients, including 8 recorded HGMD mutations and 24 novel mutations. The detection rate reached 73.1%. DNAH5 was the most frequently mutated gene, and c.8383C > T was the most common mutated variant, but it is relatively rare in PCD patients from other ethnic groups. Conclusion This study demonstrates the practical clinical utility of combining WES and low-pass WGS as a no-bias detecting tool in adult patients with PCD, showing a clinical characteristics and genetic spectrum of Chinese PCD patients.

Kartagener’s Syndrome in a Dachshund Dog

2002 ◽  
Vol 38 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Julie A. Neil ◽  
Sherman O. Canapp ◽  
Cristi R. Cook ◽  
Jimmy C. Lattimer
Keyword(s):  
Case Report ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Clinical Signs ◽  
Kartagener's Syndrome ◽  
Congenital Condition ◽  
Ciliary Dyskinesia

Kartagener’s syndrome (KS) is a rare, congenital condition characterized by situs inversus, rhinosinusitis, and bronchiectasis. An underlying ciliary dysfunction (e.g., immotility or dyskinetic beating) produces most of the clinical signs seen in affected animals. This case report reviews the history, clinical signs, and diagnosis of KS in a male, long-haired dachshund. This is the first known report of KS, and thus primary ciliary dyskinesia, in this breed of dog.

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 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 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

scholarly journals Severe haemoptysis in a 5 year old child with Kartagener’s syndrome: case report

2020 ◽  
Vol 7 (2) ◽  
pp. 462
Author(s):  
Mohinish S. ◽  
Mallesh K. ◽  
Prashanth H. K. ◽  
Ravichandra K. R.
Keyword(s):  
Case Report ◽  
Male Infertility ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Rare Autosomal Recessive Disorder ◽  
Kartagener's Syndrome ◽  
Glue Ear ◽  
Ciliary Dyskinesia

Kartagener`s syndrome, a rare autosomal recessive disorder is a type of Primary Ciliary Dyskinesia (PCD) associated situs inversus, bronchiectasis, sinusitis and male infertility. We present a case of a 5-year-old girl who came with features of bilateral glue ear, recurrent sinusitis, recurrent hemoptysis and dextrocardia. She was diagnosed to have Kartagener`s syndrome and was evaluated for recurrent hemoptysis.

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