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Kartagener SyndromeCiliary Motility DisordersAxonemal DyneinsSyndromeCiliaEustachian TubeMucociliary ClearanceEncyclopedias as Topic
Kartagener's SyndromeKnown as Kartagener syndromeBronchiectasisCiliary dyskinesiaAutosomalSitusInfertilityTriadCysticAbnormalitiesDextrocardiaDeficiencyDyneinPrevalenceDiagnosisDisordersPrimaryCongenitalPathophysiologyMental retardationClinicalRecurrentImmotileRespiratory symptomsNasal dischargeSinusitisGeneticDNAH5SignsSevereRhinosinusitisDefinitionOvarianShortnessKlinefelterPatientsDiseaseEjaculationTreatmentPolypsCoughChestMotilityEtiologyCommon symptoms
Kartagener's Syndrome17
  • Trials have also shown that there is a marked reduction in fertility in females with Kartagener's syndrome due to dysfunction of the oviductal cilia. (wikipedia.org)
  • Most women with Kartagener's syndrome have normal ovarian cycles, although fertility problems are common. (invitra.com)
  • The fallopian tubes of women with Kartagener's syndrome lack cilia, making it difficult for the egg and sperm to meet. (invitra.com)
  • Therefore, women with Kartagener's syndrome have a high percentage of ectopic pregnancy . (invitra.com)
  • Kartagener's syndrome is a rare, autosomal recessive inherited disease, which is characterized by a triad of chronic sinusitis, bronchiectasis, and situs inversus. (e-jer.org)
  • In this report, we aimed to represent the effect of aerobic exercise training in addition to chest physiotherapy in an outpatient with Kartagener's syndrome. (e-jer.org)
  • An 18-year-old female diagnosed with Kartagener's syndrome applied with the complaints of productive cough and dyspnea with exertion and attended pulmonary rehabilitation program comprising exercise training in addition to standard treatment. (e-jer.org)
  • We recommend exercise training in patients with Kartagener's syndrome to increase exercise capacity. (e-jer.org)
  • The triad of situs inversus, bronchiectasis, and chronic sinusitis became known as Kartagener's syndrome. (e-jer.org)
  • There is no randomized study in the treatment of primary ciliary dyskinesia/Kartagener's syndrome. (e-jer.org)
  • An 18-year-old female Kartagener's syndrome diagnosed patient presented to our outpatient department with the complaints of chronic productive cough and progressive dyspnea with exertion. (e-jer.org)
  • Some dogs with PCD may present the "Kartagener's syndrome" which represents a triad of signs that includes bronchectasis, complete transposition of viscera (situs inversus) and chronic rhinosinusitis. (oldenglishsheepdogclubofamerica.org)
  • In one dog, thoracic radiographs showed situs inversus of the viscera (i.e. the cardiac silhouette and the stomach were in dextroposition) indicating Kartagener's syndrome. (oldenglishsheepdogclubofamerica.org)
  • In about 50% of individuals with PCD, the major visceral organs are reversed from their normal positions (also called situs inversus or Kartagener's syndrome). (preventiongenetics.com)
  • First, other abnormalities such as CF, Kartagener's Syndrome, and other immunodeficiencies must be eliminated. (midwestsinus.com)
  • Kartagener's syndrome does exist. (nih.gov)
  • Dextrocardia is one effect of the congenital Kartagener's syndrome. (mylocalclinics.com)
Known as Kartagener syndrome2
Bronchiectasis1
  • In 1933, Kartagener described the PCD syndrome as the triad of situs inversus, bronchiectasis, and either nasal polyps or recurrent sinusitis, while the description by Afzelius in 1976 of the defects in the ultrastructure of ciliary dynein arms revealed the basis of this condition. (journalmc.org)
Ciliary dyskinesia10
  • [ 2 ] first suggested ciliary dyskinesia as the cause of Kartagener syndrome in 1975. (medscape.com)
  • [ 5 ] 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. (medscape.com)
  • Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus, are classified as having Kartagener syndrome. (medscape.com)
  • Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). (ersjournals.com)
  • Background Mostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. (ersjournals.com)
  • Primary ciliary dyskinesia (PCD), previously called immotile cilia syndrome (ICS), is a divers group of inherited structural and functional abnormalities affecting the cilia of the respiratory tract mucosa and other organs which results mainly in recurrent respiratory tract infections. (oldenglishsheepdogclubofamerica.org)
  • Dextrocardia with situs inversus totalis can manifest primary ciliary dyskinesia (Kartagener syndrome) caused by DNAI1 and DNAH5 gene mutations. (gbmn.org)
  • There have been a number of changes that reflect an evolving understanding of what causes the symptoms in what is now called primary ciliary dyskinesia (PCD). (pcdfoundation.org)
  • Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. (nih.gov)
  • Primary ciliary dyskinesia (PCD) is a genetically heterogeneous syndrome caused by defect in motile cilia. (journalmc.org)
Autosomal3
  • Kartagener syndrome (KS) is inherited via an autosomal recessive pattern. (medscape.com)
  • Kartagener syndrome (KS) is an autosomal prevalence is 1/15 000 to 1/30 000 live births1. (bvsalud.org)
  • 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. (web.app)
Situs2
  • Here we report a rare case of a young female with recurrent respiratory symptoms, dextrocardia, and situs inversus, who was misdiagnosed as a case of pulmonary tuberculosis and had received three courses of anti-tubercular therapy since year 2003, and finally diagnosed as Kartagener syndrome with severe pulmonary hypertension. (journalmc.org)
  • La triade bronchectasies, sinusites et situs inversus caractérisent le syndrome de Kartagener. (bvsalud.org)
Infertility6
  • Other genetic syndromes associated with infertility are cystic fibrosis, Kallmann syndrome and Kartagener syndrome. (dexeus.com)
  • Causes of male infertility - UpToDate Causes of male infertility Endocrine and systemic disorders (hypogonadotropic hypogonadism) Congenital disorders Congenital GnRH deficiency (Kallmann syndrome) Iron overload syndromes Multiorgan genetic disorders (Prader-Willi syndrome, Laurence-Moon-Biedl syndrome, familial cerebellar ataxia) Low sperm count (oligospermia) A malfunctioning immune system. (ubbcluj.ro)
  • The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. (ubbcluj.ro)
  • What are the symptoms of infertility? (bestinfertilitytreatment.com)
  • Please click symptoms of infertility in women and symptoms of infertility in men for detailed information. (bestinfertilitytreatment.com)
  • I will explain the signs and symptoms that will point to the possibility of infertility. (ujahealth.com)
Triad2
  • [ 1 ] first recognized this clinical triad as a distinct congenital syndrome in 1933. (medscape.com)
  • Samter's triad is a major symptom which is characterized by worsened asthma, skin rash and persistent nasal polyps and experienced as a major symptom in those patients suffering from nasal polyps along aspirin intolerance. (healthncare.info)
Cystic1
Abnormalities3
  • Chronic obstructive pulmonary disease (COPD) is characterized by chronic respiratory symptoms resulting from airflow obstruction and alveolar gas exchange abnormalities. (amboss.com)
  • Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. (web.app)
  • Aarskog syndrome facialdigitalgenital syndrome is an xlinked inherited disorder that causes multiple limb and genital abnormalities. (web.app)
Dextrocardia3
  • A very serious syndrome that appears with dextrocardia is called heterotaxy. (medlineplus.gov)
  • There are no symptoms of dextrocardia if the heart is normal. (medlineplus.gov)
  • SAS1, CJP3: writing, En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los revising and editing. (bvsalud.org)
Deficiency1
Dynein2
Prevalence4
  • Even after taking into account the explanatory factors, the largest part of the between-studies variance in symptom prevalence remained unexplained for all symptoms. (ersjournals.com)
  • Large differences in study design, selection of study populations and definition of symptoms could explain the heterogeneity in symptom prevalence. (ersjournals.com)
  • We assessed the prevalence and frequency of respiratory and ear symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD. (ersjournals.com)
  • Knowledge about symptom prevalence includes heterogeneous results derived mainly from hospital-based, single-centre studies [ 9 ]. (ersjournals.com)
Diagnosis6
  • However, diagnosis is often missed early in life despite the characteristic signs and symptoms. (wikipedia.org)
  • The signs and symptoms of this disease are well established which appear at the time of origination and allows the proper diagnosis of the disease. (healthncare.info)
  • Diagnosis and management charles kodner, md, university of louisville school of medicine, louisville, kentucky i n nephrotic syndrome, a variety of disorders cause. (web.app)
  • The diagnosis of dyrk1arelated intellectual disability syndrome is established in a proband by identification of a heterozygous pathogenic variant in dyrk1a. (web.app)
  • Each Monograph covers a specific area of respiratory medicine, providing in-depth reviews that give clinicians at all levels a concise, comprehensive guide to symptoms, diagnosis and treatment. (ersjournals.com)
  • The symptoms typically begin 30 min after eating.Which of the following is the most likely diagnosis? (blogspot.com)
Disorders3
  • Kartagener syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias. (medscape.com)
  • Oral parafunctions, piercing and signs and symptoms of temporomandibular disorders in high school students. (nih.gov)
  • Inherited disorders such as Klinefelter's syndrome - in which a male is born with two X chromosomes and one Y chromosome instead of one X and one Y - cause abnormal development of the male reproductive organs. (rajeevclinic.com)
Primary2
  • The primary goals of management of acute sinusitis are to eradicate the infection, decrease the severity and duration of symptoms, and prevent complications. (medscape.com)
  • The presence of ovarian mass is primary findings of Meigs syndrome. (syndromespedia.com)
Congenital1
  • Faciogenital dysplasia, also known as aarskog scott syndrome aas, is an xlinked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and. (web.app)
Pathophysiology1
Mental retardation1
  • Aarskogscott syndrome with attention deficithyperactivity disorder and a form of syndromic xlinked mental retardation mrxs16 are also caused by mutation in the fgd1 gene. (web.app)
Clinical4
  • We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. (ersjournals.com)
  • Information about clinical symptoms of PCD is derived mainly from case series and nonsystematic reviews reflecting expert opinion. (ersjournals.com)
  • Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome. (nih.gov)
  • Nephrotic syndrome is an important clinical condition affecting both children and adults. (web.app)
Recurrent1
  • Productive cough, rhinitis and recurrent infections of the upper and lower respiratory tract have been described as leading symptoms [ 2 , 3 ]. (ersjournals.com)
Immotile4
  • They described two patients with Kartagener syndrome who had immotile cilia and immotile spermatozoa. (medscape.com)
  • [ 4 ] used the descriptive phrase "immotile cilia syndrome" to characterize male patients with sterility and chronic respiratory infections. (medscape.com)
  • The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. (wikipedia.org)
  • Otologic manifestations of the immotile-cilia syndrome. (nih.gov)
Respiratory symptoms2
  • Since the disease impairs mucociliary clearance in the airways, most persons affected by PCD develop upper and lower respiratory symptoms [ 9 - 11 ]. (ersjournals.com)
  • DOI: 10.5377/ successful in maintaining a mild activity of the rheumatoid arthritis and without exacerbation of respiratory symptoms. (bvsalud.org)
Nasal discharge2
  • Meanwhile in children this symptom appear in association with the excessive nasal discharge. (healthncare.info)
  • These symptoms (sneezing, bilateral sero-mucous nasal discharge, productive cough, exercise intolerance, dyspnoea, and lethargy) commonly appear at a very early age (i.e. weeks to months). (oldenglishsheepdogclubofamerica.org)
Sinusitis4
  • Subacute sinusitis represents a temporal progression of symptoms for 4-12 weeks. (medscape.com)
  • A history of purulent secretions and facial or dental pain are specific symptoms that may point to a bacterial etiology in acute sinusitis. (medscape.com)
  • A surgical means of sinus drainage should be used when appropriate medical therapy has failed to control the infection and prolonged or slowly resolving symptoms result or when complications of sinusitis occur. (medscape.com)
  • Sinusitis symptoms can be treated with over-the-counter decongestant, pain, and fever medications. (georgetown-ent.com)
Genetic1
  • In some cases, however, a latent problem such as genetic disorder, hormonal imbalance, dilated veins around the testicles, or condition that prevents sperm passage cause signs and symptoms. (axepharmacy.com)
DNAH51
  • citation needed] The role of DNAH5 in heterotaxy syndromes and left-right asymmetry is also under investigation. (wikipedia.org)
Signs3
  • Furthermore, signs and symptoms of aarskog syndrome may vary on an individual basis for each patient. (web.app)
  • There might be no other obvious signs or symptoms. (rajeevclinic.com)
  • In some men, an underlying problem such as an inherited chromosomal abnormality, a hormonal imbalance, dilated testicular veins or a condition that blocks the passage of sperm may cause signs and symptoms. (rajeevclinic.com)
Severe1
  • Because there currently are no cures or regenerative therapy options for PCD, treatment and management of severe lung disease in PCD is focused on managing symptoms, including aggressively treating infections (often requires IV medications and permanent venous access lines), using supplemental oxygen, and keeping the airways as clear as possible. (pcdfoundation.org)
Rhinosinusitis2
  • If your child has acute rhinosinusitis, symptoms should improve within the first few days. (midwestsinus.com)
  • If your child suffers from one or more symptoms of rhinosinusitis for at least 12 weeks, he or she may have chronic rhinosinusitis. (midwestsinus.com)
Definition1
Ovarian3
Shortness2
  • Older patients reported more frequent nasal symptoms and shortness of breath. (ersjournals.com)
  • Coughing and shortness of breath are common symptoms of Bronchial Disease. (gadgetsng.com)
Klinefelter1
  • Klinefelter syndrome, which is characterized by the presence of two X chromosomes and one Y chromosome, can affect the development of the reproductive organs and some male secondary sexual characteristics (body hair, tone of voice, muscle development). (dexeus.com)
Patients4
  • In many diseases it is known that symptoms evolve and change with age, but few studies describe PCD patients from different age groups and show how symptoms change over time. (ersjournals.com)
  • 80-100% of all PCD patients have one or more of these symptoms. (preventiongenetics.com)
  • This phenomenon may represent a truly asymptomatic disease state, or it may suggest that patients with this chronic disease have psychologically adapted to their symptoms. (medscape.com)
  • Some patients with a history of ulcer surgery experience the dumping syndrome 30 min after eating. (blogspot.com)
Disease3
  • To better characterise the disease, we need larger, multicentre, multidisciplinary, prospective studies that include all age groups, use uniform diagnostics and report on all symptoms. (ersjournals.com)
  • The most common symptom is the nasal obstruction which is caused initially in this disease. (healthncare.info)
  • A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. (web.app)
Ejaculation1
  • The latter can lead to erection or ejaculation problems (a symptom that, in turn, can also alert us to these problems). (dexeus.com)
Treatment2
  • Children with Kartagener syndrome will need repeated treatment with antibiotics for sinus and lung infections. (medlineplus.gov)
  • These symptoms are prominent enough to distinguish the different types of polyps and helps in the choice of the proper treatment option. (healthncare.info)
Polyps2
  • These outgrown polyps may result in the blockage of the nasal passage as a prominent symptom. (healthncare.info)
  • complete nasal obstruction, uncontrolled runny nose, nasal deformity and failure of other medical managements, which requires the immediate provision of the solution.In this condition endoscopic sinus surgery involving the removal of polyps is considered as a very effective option resulting in the rapid relief of symptoms. (healthncare.info)
Cough1
  • Serve syrup until symptoms subside in the form of cough, but no longer than 2 weeks. (eliveragroup.com)
Chest1
  • The simple way to detect Meigs syndrome is chest examination and usual finding is dullness, because of effusion. (syndromespedia.com)
Motility1
Etiology1
Common symptoms1
  • Original publications describing the full spectrum of symptoms are scarce and there are few data on less common symptoms. (ersjournals.com)