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 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 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 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

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.

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

2021 ◽  
Author(s):  
Chun Bian ◽  
Xinyue Zhao ◽  
Yaping Liu ◽  
Minjiang Chen ◽  
Shuying Zheng ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Primary Ciliary Dyskinesia ◽  
Neurofibromatosis Type ◽  
Ciliary Dyskinesia

scholarly journals Understanding Primary Ciliary Dyskinesia: Experience From a Mediterranean Diagnostic Reference Centre

2020 ◽  
Vol 9 (3) ◽  
pp. 810
Author(s):  
Miguel Armengot-Carceller ◽  
Ana Reula ◽  
Manuel Mata-Roig ◽  
Jordi Pérez-Panadés ◽  
Lara Milian-Medina ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Regression Analysis ◽  
Regression Model ◽  
Logistic Regression Analysis ◽  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Logistic Regression Model ◽  
Productive Cough ◽  
Simple Logistic ◽  
Ciliary Dyskinesia

Background: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. Materials and methods: 18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, considering PCD as a dependent variable and the others as independent variables, was done. In order to define the variables that best explain PCD, a step-wise logistic regression model was defined. Aiming to classify individuals as PCD or PCD-like patients, based on variables included in the study, a classification and regression tree (CART) was designed. Results and conclusions: Simple logistic regression analysis shows statistically significant association between age at the beginning of their symptomatology, periodicity, fertility, situs inversus, recurrent otitis, atelectasis, bronchiectasis, chronic productive cough, rhinorrea, rhinusinusitis and recurrent pneumonias, and PCD. The step-wise logistic regression model selected situs inversus, atelectasis, rhinorrea, chronic productive cough, bronchiectasis, recurrent pneumonias, and otitis as PCD predictive variables (82% sensitivity, 88% specificity, and 0.92 Area Under the Curve (AUC)). A decision tree was designed in order to classify new individuals based on pansinusitis, situs inversus, periodicity, rhinorrea, bronchiectasis, and chronic wet cough.

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