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 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 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.

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

2000 ◽  
Vol 107 (6) ◽  
pp. 642-649 ◽  
Author(s):  
Gaëlle Pennarun ◽  
Catherine Chapelin ◽  
Estelle Escudier ◽  
Anne-Marie Bridoux ◽  
Florence Dastot ◽  
...  
Keyword(s):  
Expression Pattern ◽  
Primary Ciliary Dyskinesia ◽  
Dynein Intermediate Chain ◽  
Ciliary Dyskinesia ◽  
Intermediate Chain

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 Germline Mutations in an Intermediate Chain Dynein Cause Primary Ciliary Dyskinesia

2001 ◽  
Vol 25 (5) ◽  
pp. 577-583 ◽  
Author(s):  
Maimoona Zariwala ◽  
Peadar G. Noone ◽  
Aruna Sannuti ◽  
Susan Minnix ◽  
Zhaoqing Zhou ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Germline Mutations ◽  
Ciliary Dyskinesia ◽  
Intermediate Chain

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 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
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