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1.
Neumol. pediátr. (En línea) ; 14(2): 76-80, jul. 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1014992

RESUMO

Primary ciliary dyskinesia is a congenital disorder due to abnormal motile ciliary function, especially in the airway epithelium. The mucociliary clearance is impaired, producing reoccurring respiratory tract infections, usually resulting in bronchiectasis as an adult. Patients also have frequent ear and sinus infections and almost 50% of them have situs inversus. Diagnosis of primary ciliary dyskinesia is difficult because there is not a single gold standard test, resulting in the need of a multi-test approach. Until recently in our country we only had transmission electron microscopy, but nasal nitric oxide and high speed video microscopy are now available. In this article we will detail the most important clinical characteristics that make us suspect the presence of primary ciliary dyskinesia at different ages and the methods available for its diagnosis.


La discinesia ciliar primaria es una enfermedad congénita debida a una alteración del movimiento normal de los cilios, especialmente a nivel del epitelio respiratorio. Esto se traduce en una alteración del clearance mucociliar lo que predispone al paciente a tener infecciones respiratorias repetidas, terminando en la aparición de bronquiectasias en la edad adulta. También son frecuentes las infecciones repetidas de oídos y cavidades perinasales. La presencia de situs inverso puede verse en hasta en 50% de los pacientes con esta enfermedad. El diagnóstico de discinesia ciliar primaria es difícil ya que no existe un examen que sea considerado patrón de oro, por lo que se requiere la realización de distintos exámenes. En nuestro país hasta hace poco tiempo solo contábamos con la microscopía electrónica, pero recientemente se ha sumado la medición de óxido nítrico nasal y la videomicroscopía de alta velocidad. En el presente artículo se detallarán las características clínicas más importantes que hacen sospechar la presencia de DCP en las distintas edades y los métodos disponibles para su diagnóstico.


Assuntos
Humanos , Recém-Nascido , Pré-Escolar , Adulto , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Cílios/ultraestrutura , Biópsia , Algoritmos , Testes Genéticos , Microscopia de Vídeo , Microscopia Eletrônica de Transmissão , Óxido Nítrico/análise
2.
Neumol. pediátr. (En línea) ; 14(2): 81-85, jul. 2019.
Artigo em Espanhol | LILACS | ID: biblio-1014999

RESUMO

At present, there is no specific treatment for primary ciliary dyskinesia, nor controlled and randomized clinical trials to determine how the management and monitoring of these patients should be considered. The therapeutic options are extrapolated from other diseases, such as cystic fibrosis, or non-cystic fibrosis bronchiectasis. However, the implementation of specific groups of experts, both in the USA (PDC-foundation) and in Europe (BESTCILIA or BEAT-PD), are helping to increase knowledge of the disease, opening research channels and seeking new treatments. Until we have therapies capable of correcting the basic defect of the disease, the pillars of treatment are the daily cleansing of the airways and aggressive antibiotherapy against respiratory infections. Multidisciplinary care in specialized centers where pulmonary function is monitored and the infection is prevented and treated will improve, as in cystic fibrosis, the results of patients.


En la actualidad no existe un tratamiento específico para la discinesia ciliar primaria, ni se cuenta con ensayos clínicos controlados y randomizados que permitan determinar cómo debe plantearse el manejo y seguimiento de estos pacientes. Las opciones terapéuticas son extrapoladas de otras enfermedades, como la fibrosis quística, o las bronquiectasias no fibrosis quística. Sin embargo, la puesta en marcha de grupos específicos de expertos, tanto en USA (PDC-foundation) como en Europa (BESTCILIA o BEAT-PD), están permitiendo incrementar el conocimiento de la enfermedad, abriendo vías de investigación y buscando nuevos tratamientos. Hasta contar con terapias capaces de corregir el defecto básico de la enfermedad, los pilares del tratamiento son la limpieza diaria de las vías aéreas y la antibioterapia agresiva frente a las infecciones respiratorias. La atención multidisciplinar en centros especializados donde se monitorice la función pulmonar y se prevengan y traten las infecciones mejorará, como en la fibrosis quística, los resultados de los pacientes.


Assuntos
Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Infecções Respiratórias/tratamento farmacológico , Seguimentos , Pneumopatias/fisiopatologia , Pneumopatias/terapia , Pneumopatias Fúngicas
3.
Paediatr Respir Rev ; 29: 19-22, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30792130

RESUMO

Primary ciliary dyskinesia (PCD), also known as immotile-cilia syndrome, is a rare genetic disease that is inherited in an autosomal recessive manner. Several studies have explored certain aspects of PCD in the Arab world, yet much is still lacking in terms of identifying the different characteristics of this disease. In this paper, we aim to briefly cover those studies published about PCD in Arab countries, as well as to provide recommendations and guidelines for future studies.


Assuntos
Transtornos da Motilidade Ciliar/etnologia , Mundo Árabe , Árabes/genética , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Transtornos da Motilidade Ciliar/terapia , Consanguinidade , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/etnologia , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Kuweit , Oriente Médio , Guias de Prática Clínica como Assunto , Catar , Pesquisa , Arábia Saudita , Emirados Árabes Unidos , Iêmen
4.
J Med Case Rep ; 12(1): 5, 2018 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-29316973

RESUMO

BACKGROUND: Kartagener's 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. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.


Assuntos
Antibacterianos/administração & dosagem , Bronquiectasia , Dextrocardia , Expectorantes/administração & dosagem , Síndrome de Kartagener , Qualidade de Vida , Sinusite , Situs Inversus , Exercícios Respiratórios/métodos , Bronquiectasia/diagnóstico , Bronquiectasia/etiologia , Bronquiectasia/fisiopatologia , Bronquiectasia/terapia , Doença Crônica , Dextrocardia/diagnóstico , Dextrocardia/etiologia , Diagnóstico Diferencial , Aconselhamento Genético , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/psicologia , Síndrome de Kartagener/terapia , Masculino , Administração dos Cuidados ao Paciente/métodos , Sinusite/diagnóstico , Sinusite/tratamento farmacológico , Sinusite/etiologia , Situs Inversus/diagnóstico , Situs Inversus/etiologia , Adulto Jovem
5.
Paediatr Respir Rev ; 25: 73-77, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28408202

RESUMO

Primary Ciliary Dyskinesia (PCD) is a rare inherited disease with impaired mucociliary clearance. Airway clearance techniques (ACTs) are commonly recommended for patients with PCD to facilitate mucus clearance, despite a lack of evidence in this group. Current physiotherapy practice in PCD is based on evidence extrapolated from the field of Cystic Fibrosis (CF). This paper focuses on the available evidence and outlines challenges in extrapolating evidence between the conditions for best clinical practice.


Assuntos
Manuseio das Vias Aéreas/métodos , Síndrome de Kartagener , Modalidades de Fisioterapia , Criança , Fibrose Cística/terapia , Humanos , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/terapia , Depuração Mucociliar/fisiologia , Resultado do Tratamento
6.
Eur Respir Rev ; 26(145)2017 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-28877972

RESUMO

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.


Assuntos
Procedimentos Clínicos , Síndrome de Kartagener/terapia , Depuração Mucociliar , Procedimentos Clínicos/normas , Predisposição Genética para Doença , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/epidemiologia , Síndrome de Kartagener/genética , Depuração Mucociliar/genética , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Encaminhamento e Consulta , Fatores de Risco
7.
Expert Rev Respir Med ; 11(10): 779-790, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28745925

RESUMO

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Extrapolation of evidence from other diseases is inappropriate since differences in pathophysiology, morbidity and prognosis risk treatment failure and lack of adherence. Areas covered: Review authors searched PubMed and Cochrane databases for publications relating to management of children with PCD. Because of the paucity of data, we emphasise the need for well-designed clinical trials with PCD patients rather than reliance on evidence from other diseases. Expert commentary: The evidence for treatment of PCD is poor, and management is often extrapolated from studies of patients with CF or chronic rhinosinusitis. However, much work is underway to improve the situation and international consortia and networks are conducting well-designed projects to inform the management of children with PCD.


Assuntos
Continuidade da Assistência ao Paciente , Gerenciamento Clínico , Síndrome de Kartagener/terapia , Antibacterianos/uso terapêutico , Criança , Expectorantes/uso terapêutico , Humanos , Síndrome de Kartagener/diagnóstico , Depuração Mucociliar , Otite/terapia , Fármacos do Sistema Respiratório/uso terapêutico , Terapia Respiratória , Infecções Respiratórias/diagnóstico , Infecções Respiratórias/terapia , Sinusite/terapia , Espirometria , Irrigação Terapêutica , Transição para Assistência do Adulto
8.
Lung ; 195(4): 441-443, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28634892

RESUMO

Primary ciliary dyskinesia is a condition in which abnormal cilia structure or function leads to reduced mucociliary clearance and obstructive lung disease. Twenty-nine patients had lung clearance index (LCI) measured in 2009 and we attempted to perform a 5-year follow-up. Only 12 patients could be re-recruited, but in this small group LCI was stable over the 5 years, which confirms previous data showing that spirometry is also stable in these patients over the medium term. The two patients with the highest LCI in 2009 had since died, despite one having relatively preserved spirometry at the time. These data may be used to inform sample size calculations of future studies.


Assuntos
Síndrome de Kartagener/diagnóstico , Pulmão/fisiopatologia , Depuração Mucociliar , Ambulatório Hospitalar , Testes de Função Respiratória , Volume Expiratório Forçado , Humanos , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/terapia , Projetos Piloto , Valor Preditivo dos Testes , Prognóstico , Espirometria , Fatores de Tempo
10.
Eur Respir Rev ; 26(143)2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28096286

RESUMO

Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.


Assuntos
Países em Desenvolvimento/economia , Técnicas de Diagnóstico do Sistema Respiratório/economia , Custos de Cuidados de Saúde , Acesso aos Serviços de Saúde/economia , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/economia , Programas Nacionais de Saúde/economia , Análise Custo-Benefício , Diagnóstico Precoce , Humanos , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes
12.
Respir Med ; 119: 41-47, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27692146

RESUMO

BACKGROUND: Primary Ciliary Dyskinesia (PCD) is rare and its features in Israel have not been described. AIMS: to assess prevalence utilizing state-of-the-art diagnostic techniques, and describe clinical features, diagnostic and management practices in Israel. METHODS: A national multicenter study from 2012 to 2013 recruited patients diagnosed or suspected of having PCD. Diagnosis was verified using: nasal Nitric Oxide (nNO); High-speed Video Microscope Analysis (HVMA); Transmission Electron Microscopy (TEM) of cilia; Immuno-fluorescence staining (IF) for ciliary proteins, and genetic analysis. RESULTS: Of the 203 patients recruited from 14 pediatric centers, 150 had a PCD diagnosis verified. Median age was 15.05y, with range 0.15-60.5y. PCD prevalence was 1:54,000 for the general population and 1:25,000 in children (5-14 y). For the non-Jewish (mainly Druze and Arab Moslem) compared to Jewish populations, prevalence was 1:16,500 and 1:139,000 respectively (p < 0.0001) and parental consanguinity was 85.4% and 21.9% respectively (p < 0.0001). Clinical features included bronchiectasis (88%), rhinitis (81%), recurrent pneumonia (78%), recurrent otitis (62%), neonatal pneumonia (60%) and situs inversus (42%). Prior diagnostic practices varied widely between centers with TEM assessed in 55% and abnormal in 61% of these. Management included antibiotics and airway clearance. Diagnostic verification revealed for 150 PCD patients: 81% nNO<233 ppb, 62% abnormal HVMA, 51% diagnostic TEM, 58% diagnostic IF and, 57% genetic diagnosis. CONCLUSIONS: PCD in Israel is rare, with comprehensive diagnostic tests showing prevalence in children similar to Europe. Prevalence was higher in non-Jews, associated with parental consanguinity. Diagnostic and management practices vary. Referral centers providing comprehensive diagnostic and care capabilities should be established.


Assuntos
Cílios/imunologia , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/epidemiologia , Prevalência , Adolescente , Adulto , Criança , Cílios/genética , Cílios/ultraestrutura , Feminino , Humanos , Israel/epidemiologia , Síndrome de Kartagener/etnologia , Síndrome de Kartagener/terapia , Masculino , Microscopia Eletrônica de Transmissão/métodos , Óxido Nítrico/metabolismo , Estudos Prospectivos , Adulto Jovem
13.
Clin Chest Med ; 37(3): 449-61, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27514592

RESUMO

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects. There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood.


Assuntos
Tosse/etiologia , Síndrome de Kartagener/complicações , Otite Média/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Sinusite/etiologia , Administração por Inalação , Administração Intranasal , Corticosteroides , Antibacterianos/uso terapêutico , Testes Respiratórios , Doença Crônica , Cílios , Tosse/terapia , Endoscopia , Testes Genéticos , Síndrome de Heterotaxia/complicações , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Ventilação da Orelha Média , Lavagem Nasal , Óxido Nítrico/metabolismo , Otite Média/terapia , Fenótipo , Solução Salina Hipertônica/uso terapêutico , Sinusite/terapia , Situs Inversus/complicações
14.
Eur Respir J ; 48(4): 1081-1095, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27492829

RESUMO

Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratified by age and sex.We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity.We included 52 studies describing a total of 1970 patients (range 10-168 per study). We found a prevalence of 5% for congenital heart disease. For the rest of reported characteristics, we found considerable heterogeneity (I2 range 68-93.8%) when calculating the weighted mean prevalence. Even after taking into account the explanatory factors, the largest part of the between-studies variance in symptom prevalence remained unexplained for all symptoms. Sensitivity analysis including only studies with test-proven diagnosis showed similar results in prevalence and heterogeneity.Large differences in study design, selection of study populations and definition of symptoms could explain the heterogeneity in symptom prevalence. 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.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/complicações , Humanos , Lactente , Recém-Nascido , Síndrome de Kartagener/epidemiologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Prevalência , Estudos Prospectivos , Análise de Regressão , Transtornos Respiratórios/complicações , Estudos Retrospectivos , Situs Inversus/complicações , Resultado do Tratamento , Adulto Jovem
15.
Eur Respir J ; 48(2): 441-50, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27288033

RESUMO

Primary ciliary dyskinesia (PCD) in adults has not been well described. In this retrospective observational study we aimed to characterise a large adult population and identify features associated with disease progression.We retrospectively analysed 151 adult patients at a single tertiary centre at baseline and longitudinally for a median of 7 years.We found significant variation in age at diagnosis (median 23.5 years; range <1-72 years). Older age at diagnosis was associated with impaired baseline forced expiratory volume in 1 s (FEV1) (r= -0.30, p=0.01) and increased Pseudomonas aeruginosa colonisation (difference in medians 17 years (95% CI 4.5-20 years); p=0.002). Lung function decline was estimated at FEV1 decline of 0.49% predicted per year. Lung function decline was associated with ciliary ultrastructure, with microtubular defect patients having the greatest decline (p=0.04). High-resolution computed tomography (HRCT) scores of severity of bronchial wall dilatation (p<0.001) and extent of bronchiectasis (p=0.03) additionally showed evidence of modifying FEV1 decline with age.Our study reveals that a large proportion of adult PCD patients are diagnosed late, with impaired FEV1 and increased P. aeruginosa colonisation. Increased disease burden on HRCT and ciliary ultrastructure may predict progressive lung function decline. This study characterises a large adult PCD population, identifies features associated with disease progression and highlights the need for prospective trials to determine whether early diagnosis of high-risk subgroups alongside optimal management can modify disease progression.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Testes de Função Respiratória , Adolescente , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Progressão da Doença , Feminino , Seguimentos , Volume Expiratório Forçado , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Pulmão/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Escarro , Tomografia Computadorizada por Raios X , Adulto Jovem
16.
Tidsskr Nor Laegeforen ; 136(2): 128-30, 2016 Jan 26.
Artigo em Norueguês | MEDLINE | ID: mdl-26813817

RESUMO

Primary ciliary dyskinesia (PCD) is a rare disease, but causes symptoms that resemble far more common respiratory diseases. Late diagnosis is common, when damage to the respiratory system has already occurred. This article aims to elucidate the condition and the diagnostic methods available. The article is based on literature searches in PubMed and the author's own experience of patient treatment and clinical research.


Assuntos
Síndrome de Kartagener , Cílios/fisiologia , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia
17.
J Med Genet ; 53(4): 242-9, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26729821

RESUMO

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder characterised by dysfunction of motile cilia. Ciliary dysmotility causes poor mucociliary clearance and leads to impairment of pulmonary function and severe respiratory infections. PCD has no specific therapy. With the aim to permanently restore gene function and normalise ciliary motility, we used gene editing to replace mutated with wild-type sequence in defective cells. METHODS: The target gene was dynein heavy chain 11 (DNAH11), an essential component of ciliary structure. Airway ciliated cells were collected from two patients with PCD with DNAH11 nonsense mutations and altered ciliary beating and pattern. Repair of the genetic defect was performed ex vivo by site-specific recombination using transcription activator-like effector nucleases (TALENs). RESULTS: In an epithelial cell line engineered to contain the DNAH11 target site, TALENs cleaved over 80% of the mutated DNAH11 sequence and replaced the mutated sequence with wild-type sequence in about 50% of cells. In airway ciliated cells of patients with PCD, site-specific recombination and normalisation of ciliary beating and pattern occurred in 33% and 29% of cells, respectively. CONCLUSION: This study demonstrates that gene editing can rescue ciliary beating ex vivo, opening up new avenues for treating PCD.


Assuntos
Dineínas do Axonema/genética , Edição de Genes , Terapia Genética , Síndrome de Kartagener/terapia , Adolescente , Linhagem Celular , Movimento Celular/genética , Cílios/metabolismo , Cílios/patologia , Células Epiteliais/patologia , Genótipo , Humanos , Síndrome de Kartagener/genética , Síndrome de Kartagener/patologia , Lentivirus/genética , Masculino , Fenótipo , Gêmeos
18.
Rev Mal Respir ; 33(2): 165-89, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26654126

RESUMO

INTRODUCTION: Primary ciliary dyskinesia is an autosomal recessive genetic disorder leading to structural and/or functional abnormalities of motor cilia. Impaired mucociliary clearance is responsible for the development of a multi-organ disease, which particularly affects the upper and lower airways. STATE OF THE ART: In adults, primary ciliary dyskinesia is mainly characterized by bronchiectasis and chronic ear and sinus disorders. Situs inversus is found in half of patients and fertility disorders are commonly associated. Diagnosis is based on specialized tests: reduced level of nasal nitric oxide concentrations is suggestive of primary ciliary dyskinesia, but only a nasal or bronchial biopsy/brushing with analysis of beat pattern by videomicroscopy and/or analysis of cilia morphology by electronic microscopy can confirm the diagnosis. However, the diagnosis is difficult to achieve due to the limited access to these specialized tests and to difficulties in interpreting them. Genetic tests are under development and may provide new diagnostic tools. Treatment is symptomatic, based on airway clearance techniques (e.g., physiotherapy) and systemic and/or inhaled antibiotics. Prognosis is related to the severity of the respiratory impairment, which can be moderate or severe. PERSPECTIVES AND CONCLUSIONS: Diagnosis and management of primary ciliary dyskinesia remain poorly defined and should be supported by specialized centers to standardize the diagnosis, improve the treatment and promote research.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Adulto , Bronquiectasia/diagnóstico , Bronquiectasia/etiologia , Cílios/patologia , Diagnóstico Diferencial , Otopatias/diagnóstico , Otopatias/etiologia , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/epidemiologia , Depuração Mucociliar/fisiologia , Doenças dos Seios Paranasais/diagnóstico , Doenças dos Seios Paranasais/etiologia
19.
Auris Nasus Larynx ; 43(3): 229-36, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26527516

RESUMO

Primary ciliary dyskinesia (PCD) is a genetic disease inherited in an autosomal recessive manner. The prevalence of PCD is estimated to be 1 in 20,000 live births. Congenital abnormality of the primary cilia results in situs inversus in 50% of patients. Decreased function of motile cilia causes chronic rhinosinusitis, otitis media with effusion, bronchiectasis and infertility. Cases with situs inversus are considered to show "Kartagener's syndrome", and diagnosis is not difficult. However, in cases without situs inversus, the diagnosis is much more troublesome. PCD without situs inversus is thus probably underdiagnosed. Prolonged chronic cough represents an important symptom that is seen in most patients. The diagnosis of PCD requires the presence of the characteristic clinical phenotypes and either: (1) specific ciliary ultrastructural defects identified by transmission electron microscopy in biopsy samples of respiratory epithelium; or (2) identification of mutation in one of the genes known to be associated with PCD. Nasal nitric oxide concentration is extremely low in PCD, and this could be useful for screening of the disease. At present, no fundamental therapies are available for PCD. Diagnosis in the early stages is important to prevent progression of bronchiectasis and deterioration of lung function by guidance for daily life, immunization, cessation of smoking and prompt therapy at the time of respiratory tract infection. Since PCD is inherited in an autosomal-recessive manner, genetic counseling is necessary after definite diagnosis.


Assuntos
Síndrome de Kartagener/diagnóstico , Mucosa Respiratória/ultraestrutura , Infecções Respiratórias/tratamento farmacológico , Bronquiectasia/etiologia , Bronquiectasia/prevenção & controle , Doença Crônica , Intervenção Médica Precoce , Aconselhamento Genético , Humanos , Infertilidade/etiologia , Síndrome de Kartagener/complicações , Síndrome de Kartagener/patologia , Síndrome de Kartagener/terapia , Microscopia Eletrônica de Transmissão , Mutação , Cavidade Nasal , Óxido Nítrico/análise , Otite Média/tratamento farmacológico , Otite Média/etiologia , Infecções Respiratórias/etiologia , Rinite/tratamento farmacológico , Rinite/etiologia , Sinusite/tratamento farmacológico , Sinusite/etiologia , Abandono do Hábito de Fumar , Vacinação
20.
Pediatr Pulmonol ; 51(2): 115-32, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26418604

RESUMO

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto-sino-pulmonary disease in both children and adults. Many physicians incorrectly diagnose PCD or eliminate PCD from their differential diagnosis due to inexperience with diagnostic testing methods. Thus far, all therapies used for PCD are unproven through large clinical trials. This review article outlines consensus recommendations from PCD physicians in North America who have been engaged in a PCD centered research consortium for the last 10 years. These recommendations have been adopted by the governing board of the PCD Foundation to provide guidance for PCD clinical centers for diagnostic testing, monitoring, and appropriate short and long-term therapeutics in PCD patients.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Biópsia , Testes Respiratórios , Doença Crônica , Gerenciamento Clínico , Testes Genéticos , Humanos , Vacinas contra Influenza/uso terapêutico , Microscopia Eletrônica , Microscopia de Vídeo , América do Norte , Vacinas Pneumocócicas/uso terapêutico , Vacinas contra Vírus Sincicial Respiratório/uso terapêutico , Terapia Respiratória/métodos
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