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 Situs inversus totalis - a case report

2014 ◽  
Vol 03 (04) ◽  
pp. 220-224
Author(s):  
Malamoni Dutta ◽  
Joydev Sarma
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Situs Inversus Totalis ◽  
Medical Attention ◽  
Kartagener Syndrome ◽  
Live Births ◽  
Medical College ◽  
Exact Etiology ◽  
Ciliary Dyskinesia

AbstractSitus inversus is a congenital positional anomaly characterized by transposition of abdominal viscera and when associated with right sided heart (Dextrocardia) is referred to as Situs inversus totalis. It is not so uncommon congenital positional anomaly but can be a diagnostic problem at times. The case was detected in the Department of Anatomy, Gauhati Medical College during the routine dissection. Situs inversus was first described by Aristotle in animals and by Fabricius in humans. Its incidence has been reported between 1 in 4000 to 20,000 live births. The exact etiology is unknown but Autosomal recessive and X-linked inheritance have been reported. It can also occur in association with syndromes such as Kartagener syndrome or Primary Ciliary Dyskinesia (PCD). Many people with situs inversus totalis are unaware of their unusual anatomy until they seek medical attention for any condition.

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.

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 Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

2001 ◽  
Vol 68 (4) ◽  
pp. 1030-1035 ◽  
Author(s):  
Cécile Guichard ◽  
Marie-Cécile Harricane ◽  
Jean-Jacques Lafitte ◽  
Philippe Godard ◽  
Marc Zaegel ◽  
...  
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Chain Gene ◽  
Kartagener Syndrome ◽  
Dynein Intermediate Chain ◽  
Axonemal Dynein ◽  
Ciliary Dyskinesia ◽  
Intermediate Chain

scholarly journals Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Fuad Al Mutairi ◽  
Randa Alkhalaf ◽  
Abdullah Alkhorayyef ◽  
Fayhan Alroqi ◽  
Alyafee Yusra ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Molecular Testing ◽  
Case Presentation ◽  
Immotile Cilia ◽  
Whole Exome ◽  
Novel Variant ◽  
Pathophysiological Aspect ◽  
Ciliary Dyskinesia

Abstract Background Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing with the advancement of genetic and molecular testing. Case presentation Here in, we report two siblings with a classical clinical and radiological presentation of PCD. Using whole exome sequencing we identified a homozygous truncating variant (c.3402 T > A); p.(Tyr1134*) in the NEK10 gene. Western bolt analysis revealed a decrease in the expression of NEK10 protein in the patient cells. Conclusions NEK10 plays a central role in the post-mitotic process of cilia assembly, regulating ciliary length and functions during physiological and pathological status. This study highlights the challenges of identifying disease-causing variants for a highly heterogeneous disorder and reports on the identification of a novel variant in NEK10 which recently associated with PCD.

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 Laparoscopic Cholecystectomy in Kartagener Syndrome

2017 ◽  
Vol 51 (4) ◽  
pp. 192-194
Author(s):  
Rahul Gupta ◽  
Harjeet Singh ◽  
Ganga R Verma
Keyword(s):  
Laparoscopic Cholecystectomy ◽  
Laparoscopic Surgery ◽  
Magnetic Resonance ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Epigastric Pain ◽  
Autosomal Recessive Disorder ◽  
Situs Inversus Totalis ◽  
Kartagener Syndrome ◽  
Abdominal Organs

ABSTRACT Kartagener syndrome is a rare autosomal recessive disorder in which there is situs inversus involving abdominal or thoracic viscera or both. Anatomy of the abdominal organs in such a patient is distorted making laparoscopic surgery very difficult. A 45-year-old lady, a known case of Kartagener syndrome, presented with epigastric pain. Ultrasound of abdomen revealed situs inversus with mild hepatomegaly and multiple gallbladder calculi. Magnetic resonance pancreatocholangiography (MRCP) confirmed situs inversus totalis with cholelithiasis and mild central intrahepatic biliary dilatation. Patient was treated successfully with laparoscopic cholecystectomy. How to cite this article Gupta R, Singh H, Verma GR. Laparoscopic Cholecystectomy in Kartagener Syndrome. J Postgrad Med Edu Res 2017;51(4):192-194.

scholarly journals A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Maria Santa Rocca ◽  
Gioia Piatti ◽  
Angela Michelucci ◽  
Raffaella Guazzo ◽  
Veronica Bertini ◽  
...  
Keyword(s):  
Case Report ◽  
Primary Ciliary Dyskinesia ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Normal Pressure ◽  
Chronic Infections ◽  
Molecular Tests ◽  
Genes Encoding ◽  
Ciliary Dyskinesia

Abstract Background Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes of PCD are the result of mutations in genes encoding components of axonema or factors involved in axonemal assembly. Recent studies have identified over 45 PCD-associated genes, therefore, molecular analysis represents a powerful diagnostic tool to confirm and uncover new genetic causes of this rare disease. Case presentation Here, we describe a female infant of Moroccan origin with normal pressure hydrocephalus (NPH) in addition to most common PCD symptoms. Transmission Electron Microscopy (TEM) and molecular tests, such as a Next generation Sequencing panel and a custom array CGH, were performed for diagnosis of PCD. TEM revealed outer dynein arm (ODA) defects, whilst molecular analyses detected a novel 6,9 kb microdeletion in DNAI2 gene. Conclusions Since DNAI2 mutations are very rare, this case report contributes to better delineate the important role of DNAI2 as causative of PCD phenotype, suggesting, furthermore, that the variations in DNAI2 may be as a new genetic risk factor for NPH. Indeed, although the association of hydrocephalus with PCD has been well documented, however, only a small number of human patients show this defect. Furthermore, this study highlights the importance of high-throughput technologies in advancing our understanding of heterogeneous genetic disorders.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

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