It is autosomal recessive, meaning that it only occurs if both parents carry the gene. Kartagener s syndrome is manifest by the association of sinusitis, situs inversus, and bronchiectasis. Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. In this study, two unrelated portuguese children with strong pcd suspicion underwent extensive clinical and genetic assessments by wholeexome sequencing wes, as well as ultrastructural analysis of cilia by. In 1981, rossman and coworkers coined the term primary ciliary dyskinesia pcd because some patients with kartagener syndrome had cilia that were not immobile but exhibited an uncoordinated and inefficient movement pattern. Kartagener syndrome is a rare autosomal genetic disease, accounting for approximately 5060% of the cases of primary ciliary dyskinesia and characterized by the clinical triad of chronic sinusitis. Kartagener syndrome affects approximately 30,000 people, including all genders. He was married for 15 years but had borne no children. You may do so in any reasonable manner, but not in any way that. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. Apr 16, 2014 autosomical recesive disease prevalence. Kartageners syndrome definition of kartageners syndrome. Kartagener syndrome usmle step 1 linkedin slideshare. Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the.
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,00060,000 5. Feb 02, 2015 kartagener syndrome can be caused by changes mutations in many different genes. Pronunciation of kartagener syndrome with 1 audio pronunciation and more for kartagener. Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Kartagener s syndrome is characterised by the triad of chronic sinusitis, bronchiectasis, and situs inversus. Kartagener and stucki 1962 found 334 cases in the literature and added 2 more cases of bronchiectasis with situs inversus.
The triad of situs inversus, bronchiectasis and sinusitis is clearly shown in this case. Primary ciliary dyskinesia genetics home reference nih. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. More than 75% of fullterm neonates with pcd have neonatal respiratory distress requiring supplemental oxygen for days to weeks. This means that kartagener syndrome, or a subtype of kartagener syndrome, affects less than 200,000 people in the us population. Clinical and genetic aspects of primary ciliary dyskinesia. On examination, apex beat was in the sixth right intercostal space with heart sounds being heard on the right side of the chest. Primary ciliary dyskinesia pcd, also immotile ciliary syndrome or kartagener syndrome, is a rare, ciliopathic autosomal recessive genetic disorder that causes defects in the action of cilia lining the lower and upper respiratory tract e. Kartagener, an internist in zurich, and horlacher described a familial form of bronchiectasis with dextrocardia and nasal polyps kartagener and horlacher, 1936. Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by an abnormal ciliary structure or function, leading to impaired mucociliary clearance. Primary ciliary dyskinesiakartagener syndrome clinical and genetic aspects. Kartageners syndrome international journal of medical and.
Kartagener syndrome is usually due to mutation in the gene called dnai1 on chromosome 9. The underlying cause is a defect of cilia in the airways, making them unable to beat ciliary immotility, unable to beat normally ciliary dyskinesia, or absent altogether ciliary aplasia. Empirical antibiotic therapy and supportive pulmonary care were initiated, and the patient was discharged with the resolution of symptoms 1 week later. For language access assistance, contact the ncats public information officer.
Primary ciliary dyskinesia kartagener syndrome treatment. Samples of respiratory epithelium were obtained with the method of nasal. Antibiotics and expectorant were prescribed for 3 weeks, and surgical resection of the abscess was recommended with the consideration of the formation of localized abscess and bad absorption of the lesions. A link between cilia and lr determination had long been speculated since the discovery of kartagener syndrome kartagener, i 933, a relatively rare genetic disorder in human. In case 1, a normal bronchogram was seen at 6 years of age.
Primary ciliary dyskinesia pcd is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease. In some patients, the accumulation of airway secretions and recurrent infections lead to endstage lung disease, for which lung transplantation is the only effective treatment. Autosomal recessive inheritance cannot be doubted on account of repeated observations of affected sibs and parental cansanguinity. Absence of frontal sinuses is a recognized association. Kartagener syndrome refers to the association of chronic sinusitis, bronchiectasis and situs inversus, as described by a swiss physician about 70 years ago. Patients diagnosed earlier in life, and hence who had received more treatment for their condition, had better scores on the sgrq impact and.
This file is licensed under the creative commons attribution 2. Heterotaxia, congenital heart disease, and primary ciliary. A genetic syndrome that is characterized by sinusitis, bronchiectasis widening and inflammation of the bronchi, dextrocardia heart on the right side of the chest, and infertility. Primary ciliary dyskinesia siewerts kartageners syndrome. It is estimated that one in three people are born with the triad of changes that. Prevalence and genetics of immotilecilia syndrome and lefthandedness. Respiratory symptoms began in infancy in all three patients. Technical considerations for lung transplantation in. During the past 3 years, the episode frequency was 34 times per year. The kartagener syndrome is an autosomal recessive condition characterized by primary ciliary dyskinesia, abnormal frontal sinuses and situs inversus. Learn about its symptoms and how its diagnosed and treated. The patient had chronic sinopulmonary symptoms, situs inversus, and absent frontal sinuses, while his spermatozoa had normal motility, ultrastructure, and fertilizing capacity. Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children infertility.
Kartagener syndrome symptoms, diagnosis, treatments and. Primary ciliary dyskinesiakartagener syndrome clinical and. Kartageners syndrome ks is a rare autosomal recessive genetic disorder with a. The term kartagener syndrome was later adopted when additional features of rhinitis, nasal polyps, chronic otitis media, and reduced fertility were recognized. Kartagener syndrome symptoms, causes, diagnosis, treatment.
Cilia are tiny, hairlike structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs. Kartagener described a curious combination of situs inversus, chronic sinusitis, and bronchiectasis, which subsequently became known as the kartagener triad. Based on all the findings, she was diagnosed of kartagener syndrome ks. Apr 23, 2014 approximately half of patients with pcd have the full triad of kartagener s syndrome ks. In 1933, manes kartagener, a professor of pathology at the university of zurich, first published on the link between bronchiectasis, sinusitis, and situs inversus.
The mechanism of the reversal of laterality remains an enigma, but it appears to be strictly an abolition. Kartageners syndrome is manifest by the association of sinusitis, situs inversus, and bronchiectasis. Kartageners syndrome and the syndrome of immotile cilia. Kartageners syndrome is a rare genetic disease that causes problems with your airways.
When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have kartagener syndrome. Kartagener syndrome is characterized by p rimary ciliary dyskinesia and situs inversus totalis. Current nomenclature classifies all congenital ciliary disorders as primary ciliary dyskinesias in order to differentiate them from acquired types. Kartagener syndrome definition and patient education. There may also be a link with retinitis pigmentosa and hearing loss 4. This disorder affects the activity of proteins important to the movement of cilia, especially in the respiratory tract and the spermatozoa, developing a series of systemic alterations, which can be. T1 dysmotile cilia syndrome kartageners au hartman, thomas. Student guide for the preparation of usmle step 1 facts that might help you with your performance good luck. Complaints the patient is a 40 year old female, housewife who presented with cough with expectoration x 1820 years chronic nasal congestion x 1820 years shortness of breath x 56 years with aggravated symptoms in the last 20 days.
Kartagener syndrome ks is a rare disorder characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. We treated three children with kartagener s syndrome, two of them sisters. However, linkage studies have mapped the disease gene to 5p and 19q in some families, indicating that kartagener syndrome is more than one genetic entity. This genetic disorder exhibits situs inversion similar to the iv mutant mouse accompanied by loss of motility of respiratory cilia and the sperm flagella afzelius, 1976. Kartagener syndrome dentomaxillofacial radiology vol. Kartageners syndrome ks is a hereditary disease with typical symptoms of situs inversus, bronchiectasis, and chronic infections of the nasal mucosa. Situs inversus is defined as a complete mirror image of normal organ placement. Patients generally present with recurrent upper and lower respiratory tract infection because of ineffective mucociliary clearance. This is a rare hereditary disease, caused by a gene defect, as you will have the opportunity to read below.
Kartagener syndrome ks is a rare recessive autosomal disease with an incidence of approximately 1 in 32,000 live births 1, 2. N2 imaging description dysmotile cilia syndrome or primary ciliary dyskinesia pcd leads to abnormalities in mucociliary clearance that can result in pulmonary and sinus disease. Clinical and genetic aspects of primary ciliary dyskinesiakartagener syndrome. Pdf kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia. Since birth he had had recurrent episodes of respiratory tract infections, for which he used to take drugs from his family doctor. Kartagener syndrome is inherited in an autosomal recessive manner. Primary ciliary dyskinesia pcd, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract lower and upper, sinuses, eustachian tube, middle ear, fallopian tube, and flagellum of sperm cells. Complete situs inversus associated with bronchiectasis and chronic sinusitis associated with ciliary dysmotility and impaired ciliary mucous transport in the respiratory epithelium. A 23yearold man was admitted to our hospital because of recurrent cough with purulent expectoration, which had occurred intermittently for the past ten years.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Primary ciliary dyskinesia pcd, also called the immotilecilia syndrome is characterized by congenital impairment of mucociliary clearance mcc. Kartageners syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and. Jan 10, 2018 kartageners syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. The mechanism of the reversal of laterality remains an enigma, but it appears to be strictly an. We treated three children with kartageners syndrome, two of them sisters. It is characterized by primary ciliary dyskinesia accompanied by sinusitis, bronchiectasis, and situs inversus. Clinical and genetic aspects of primary ciliary dyskinesiakartagener. Cilia are microscopic, fingerlike projections that stick out from the surface of cells. Mar, 2018 fortunately, primary ciliary dyskinesia and kartagener syndrome usually become less problematic near the end of the patients second decade, and many patients have near normal adult lives. Arge 1960 described transposition of the viscera and sterility in men. Because of the lack of major randomized control trials involving patients with kartagener syndrome, no firm guidelines exist for management and most of those currently used are modified from prior cystic fibrosis studies.
Based on the clinical presentation and radiological findings, kartagener syndrome ks was diagnosed. Kartagener s syndrome is a rare genetic disease that causes problems with your airways. Kartagener syndrome can be caused by changes mutations in many different genes. Kartagener syndrome a clinical variant of primary ciliary dyskinesia is an autosomal recessive disease characterized by the triad. Kartagener syndrome definition of kartagener syndrome by. Most of the diseasecausing mutations identified to date involve the heavy dynein axonemal heavy chain 5 or. Kartagener syndrome is a medical condition, which is primarily characterized by three changes. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in kartageners syndrome. Kartageners syndrome is a rare genetic disorder of ciliated epithelial cells associated with recurrent respiratory tract infections, bronchiectasis, and situs inversus. Apr 25, 2009 primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia.
Left middle lobectomy for bronchiectasis in a patient with. May 30, 2015 kartagener syndrome ks is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus. Longterm observations in patients with kartageners syndrome situs inversus, bronchiectasis, and sinusitis are rare. Jan 12, 2011 kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Primary ciliary dyskinesia immotile cilia syndrome kartagener syndrome. It is classified under the group of disorders called primary ciliary dyskinesias. Kartagener syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Our case was diagnosed with synchronous kartagener syndrome, pulmonary infection and bronchiectasis of the left upper lobe. Prevention of dwindling pulmonary function is the primary end goal of clinical treatment. Kartagener syndrome multisystem findings radiology. Typical case of kartegener syndrome, including chest xray and ct studies as well as ct scanning of the paranasal sinuses. Kartagener syndrome an overview sciencedirect topics.
These genes encode proteins that are important to the structure and function of cilia. Clinical and genetic analysis of children with kartagener. The metabolic and molecular bases of inherited disease, 8th ed, scriver cr, beaudet al, sly ws, vale d eds, mcgraw hill, new york 2000. Approximately 50% of patient with primary ciliary dyskinesia. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. A multidisciplinary disease management approach to chronic disease is now well. Pcd is a phenotypically and genetically incidence of kartageners syndrome is 5% heterogeneous condition where in the primary defect is in the, ultrastructure or approximately 90% of pcd patients and involve the outer dynein arms, inner dynein arms, or both. Kartagener syndrome ks is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus.
Pronunciation of kartagener syndrome with 1 audio pronunciation and more for kartagener syndrome. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Wed like to understand how you use our websites in order to improve them. Kartageners syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Dec 12, 2018 kartagener syndrome is inherited in an autosomal recessive manner. If you have problems viewing pdf files, download the latest version of adobe reader. The bronchopulmonary symptoms in sibs, however, cannot be explained by this mode of inheritance. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. The prognosis of patients with kartagener syndrome was outlined in a longitudinal study, which measured longterm outcomes and pulmonary function test results. A 43yearold man presented with cough and expectoration for 7 days. Kartagener syndrome genetic and rare diseases information.
Primary ciliary dyskinesia pcd is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. Kartagener syndrome is a very rare hereditary disorder that is caused by defects in the genes. Kartageners syndrome with normal spermatozoa jama jama. Kartagener syndrome ks, an autosomal recessively inherited disease, is characterized by the triad of situs inversus, bronchiectasis and sinusitis. The phrase immotile ciliary syndrome is no longer favored as the cilia do have movement, but are merely inefficient or. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a. Kartageners syndrome in childhood jama pediatrics jama. It is suspected that visceral rotation in the embryo is dependent upon normal ciliary action hence, the association between primary ciliary dyskinesia and situs inversus. The signs and symptoms of this condition are caused by abnormal cilia and flagella. Kartagener pronounced kartagayner syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Although the internal organs are abnormally placed, this condition typically does not cause any. Immotilecilia syndrome primary ciliary dyskinesia including kartagener syndrome.
1464 1313 1034 544 227 1003 1402 1101 223 401 563 1047 664 1512 1013 1341 884 1014 616 1616 17 475 1404 1401 530 592 1166 1015 1384 510 1239 1318 668 1113 1115