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1.
Pan Afr Med J ; 33: 316, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692834

RESUMO

Kartagener's syndrome is a rare primitive ciliary dyskinesia (DCP) characterized by a clinical triad: sinusitis, bronchiectasis and complete or incomplete situs inversus. It is a rare congenital autosomal recessive disease. We report a case of Kartagener syndrome in an infertile couple with akinospermia detected using spermogram.


Assuntos
Infertilidade Masculina/diagnóstico , Síndrome de Kartagener/diagnóstico , Espermatozoides/anormalidades , Adulto , Humanos , Achados Incidentais , Masculino
2.
Turk J Pediatr ; 61(1): 20-25, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31559717

RESUMO

Güney E, Emiralioglu N, Cinel G, Yalçin E, Dogru D, Kiper N, Özçelik HU. Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children. Turk J Pediatr 2019; 61: 20-25. Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by recurrent respiratory tract infections. The measurement of nasal nitric oxide (nNO) is an important test for the diagnosis of PCD. In this study, we aim to evaluate NIOX-MINOÒ, which is an easily applicable method for measuring nNO, in the diagnosis of patients with PCD and define diagnostic cut-off levels. Furthermore, determining the normal limits of nNO in healthy children and investigating nNO levels of children with cystic fibrosis (CF) are the other aims of this study. The children included in this study were 5 to 18.5 years old, 46 of them had PCD, 44 had CF and 200 were healthy children. To our knowledge, this work contains the widest population compared to previous studies. Subjects receiving steroids or antibiotics or those with any acute respiratory tract infection, asthma or allergic rhinitis were not included in the study. Mean nNO levels were found as 10.4, 22.8 and 21.0 ppb in PCD, CF and healthy children, respectively. The nNO levels for PCD patients were found significantly lower than children with CF and the control groups (p < 0.05). In this study, the diagnostic nNO cut-off level between PCD and the other two groups was determined to be < 11.5 ppb with %83.6 specificity and %67.4 sensitivity. The screening of nNO with NIOX-MINO method provides early diagnose before mucosal biopsy of patients who are suspected to have PCD and therefore, prevents co-morbidities and prolongs survival with early treatment.


Assuntos
Fibrose Cística/diagnóstico , Síndrome de Kartagener/diagnóstico , Óxido Nítrico/metabolismo , Adolescente , Biomarcadores/metabolismo , Testes Respiratórios , Estudos de Casos e Controles , Criança , Pré-Escolar , Fibrose Cística/metabolismo , Feminino , Humanos , Síndrome de Kartagener/metabolismo , Masculino , Nariz , Sensibilidade e Especificidade
3.
BMC Pulm Med ; 19(1): 135, 2019 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-31345208

RESUMO

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diagnosis in Asia. To characterize PCD previously reported in Japan, we conducted a systematic review and meta-analysis. METHODS: A search using MEDLINE, EMBASE, and Japana Centra Revuo Medicina (in Japanese) databases was carried out to identify articles reporting PCD, Kartagener syndrome, or immotile cilia syndrome in Japanese patients and published between 1985 and 2015. RESULTS: After excluding duplication from 334 reports, we extracted 316 patients according to the criteria. Diagnosis was most frequently made in adulthood (148 patients [46.8%] ≥ 18 years old, 24 patients [7.6%] < 1 year old, 68 patients [21.5%] 1-17 years old and 76 patients [24.1%] lacking information). Of the 230 patients (72.8%) who received EM examination, there were patients with inner dynein arm (IDA) defects (n = 55; 23.9%), outer dynein arm (ODA) defects (14; 6.1%), both ODA and IDA defects (57; 24.8%), other structural abnormalities (25; 10.9%), no abnormalities (4; 1.7%), and no detailed conclusion or description (75; 32.6%). CONCLUSION: Delayed diagnosis of this congenital disease with high frequency of IDA defects and low frequency of ODA defects appear to be historical features of PCD reported in Japan, when EM was a main diagnostic tool. This review highlights problems experienced in this field, and provides basic information to establish a modernized PCD diagnosis and management system in the future.


Assuntos
Dineínas/deficiência , Síndrome de Kartagener/diagnóstico , Cílios/fisiologia , Cílios/ultraestrutura , Diagnóstico Tardio , Dineínas/ultraestrutura , Humanos , Japão , Síndrome de Kartagener/patologia , Microscopia Eletrônica
4.
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
5.
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
6.
Neumol. pediátr. (En línea) ; 14(2): 100-104, jul. 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1015017

RESUMO

Primary ciliary dyskinesia is a rare autosomal recessive disease with compromised mucociliary drainage. Among the most commonly recommended non-pharmacological therapeutic strategies are secretion drainage techniques. However, the evidence for the use and effectiveness of these techniques is low, and they are generally based on extrapolated evidence of cystic fibrosis. This article reviews the recommendations and available evidence of chest physiotherapy, mainly manual and instrumental techniques of bronchial drainage and physical exercise in children with primary ciliary dyskinesia.


La disquinesia ciliar primaria es una enfermedad autosómica recesiva rara con compromiso del drenaje mucociliar. Entre las estrategias terapéuticas no farmacológicas más comúnmente recomendadas se encuentra las técnicas de drenaje de secreciones. Sin embargo, la evidencia del uso y efectividad de estas técnicas es reducida y generalmente se basan en evidencia extrapolada de la fibrosis quística. Este artículo revisa las recomendaciones y la evidencia disponible de la kinesiología respiratoria, principalmente las técnicas manuales e instrumentales de drenaje bronquial y el ejercicio físico en niños con disquinesia ciliar primaria.


Assuntos
Humanos , Lactente , Criança , Adulto , Pneumonia/terapia , Terapia Respiratória/métodos , Síndrome de Kartagener/diagnóstico , Modalidades de Fisioterapia , Exercício Físico/fisiologia , Drenagem/instrumentação , Secreções Corporais
7.
J Hum Genet ; 64(8): 711-719, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31186518

RESUMO

Primary ciliary dyskinesia (PCD) is a rare phenotypically and genetically heterogeneous disorder resulting from abnormal cilia ultrastructure and function. Few studies have reported the phenotype and genetic characteristics of PCD caused by mutations in DNAAF3. In this study, four PCD patients with DNAAF3 mutations underwent extensive clinical assessments, cilia ultrastructural and motion evaluations. All patients presented with situs inversus totalis, neonatal respiratory distress, and sinusitis; however, they did not have recurrent infections of the lower airways. The nasal nitric oxide level of these patients was markedly reduced. The respiratory cilia were found to be uniformly immotile, with their dynein arms defects. A total of 7 (5 novel) variants in DNAAF3 were identified and cosegregated in their families by Trio-based whole-exome sequencing. As the first report on DNAAF3 mutations in PCD patients in China, our study not only contributes to a deeper appreciation of the phenotypic characteristics of patients with DNAAF3 mutations but also expands the spectrum of DNAAF3 mutations and may contribute to the genetic diagnosis of and counseling for PCD.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação , Fenótipo , Biomarcadores , Criança , Cílios/metabolismo , Cílios/ultraestrutura , Consanguinidade , Análise Mutacional de DNA , Feminino , Imunofluorescência , Loci Gênicos , Testes Genéticos , Humanos , Imuno-Histoquímica , Lactente , Síndrome de Kartagener/metabolismo , Masculino , Proteínas Associadas aos Microtúbulos/metabolismo , Óxido Nítrico/metabolismo , Linhagem , Mucosa Respiratória , Tomografia Computadorizada por Raios X
8.
Arch Argent Pediatr ; 117(3): e292-e296, 2019 06 01.
Artigo em Espanhol | MEDLINE | ID: mdl-31063320

RESUMO

Kartagener Syndrome is an inherited autosomal recessive disorder characterized by primary ciliary dyskinesia and the triad of situs inversus viscerum, chronic sinus disease and bronchiectasis. Its prevalence varies from 1/15 000 to 1/30 000 but it is estimated that a lot of patients with primary ciliary dyskinesia have not been diagnosed as such. Its clinical presentation is non-specific and heterogeneous, and there is not a single, gold standard, diagnostic test. The diagnosis is often delayed because of these reasons and limitations and no availability of diagnostic tests. Early diagnosis and treatment change patient's prognosis. In addition, Scientific Societies have published recent diagnostic algorithm to evaluate the patient with suspected primary ciliary dyskinesia. Therefore, it is important to keep up to date with all the latest articles. We present the case of a newborn with this syndrome diagnosed by genetic analysis in a secondary care hospital.


Assuntos
Síndrome de Kartagener/diagnóstico , Transtornos da Motilidade Ciliar/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Síndrome de Kartagener/genética , Síndrome de Kartagener/fisiopatologia
9.
Intern Med ; 58(16): 2383-2386, 2019 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-31118369

RESUMO

A 33-year-old woman presented with a productive cough from childhood. She had suffered from repeated bacterial pneumonia. Her clinical and imaging findings revealed chronic sinusitis, bronchiectasis and situs inversus. We suspected primary ciliary dyskinesia (PCD) and performed a bronchial mucosal biopsy. The ciliary beat pattern according to high-speed video microscopy was complete loss. Electron microscopic findings of cilia showed defect of outer dynein arm (ODA). A genetic examination detected compound heterozygous mutations of DNAH5 that encode ODA components. There are few reports of genetic mutation analyses in Japanese PCD patients. We herein report a PCD patient with DNAH5 mutations and review the related literature.


Assuntos
Dineínas do Axonema/genética , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/genética , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Situs Inversus/complicações , Adulto , Análise Mutacional de DNA , Feminino , Humanos , Japão , Mutação
10.
Kyobu Geka ; 72(3): 199-203, 2019 Mar.
Artigo em Japonês | MEDLINE | ID: mdl-30923296

RESUMO

We report a new-born case of total conus defect type ventricular septal defect (VSD) and single coronary artery with situs inversus totalis, suspected Kartagener syndrome clinically. After the birth, as the patient had suffered from respiratory distress due to high pulmonary blood flow through the large defect, surgery was planned at age of 14-days after birth. Under median sternotomy and cardiac arrest, patch closure of VSD was performed as ordinary fashion. In spite of the situs inversus totalis and single coronary artery arose from right coronary sinus, operator could have completed all of surgical procedure at the right side of patient as usual. No remarkable respiratory complication was seen postoperatively and she was discharged from hospital 18th day in a good condition.


Assuntos
Síndrome de Kartagener/cirurgia , Feminino , Parada Cardíaca Induzida , Humanos , Recém-Nascido , Síndrome de Kartagener/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Situs Inversus/complicações , Esternotomia/métodos
11.
Chest ; 155(5): 1008-1017, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30826306

RESUMO

BACKGROUND: Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests. High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis. It can be analyzed on the day of diagnostic consultation, but the qualitative analyses are subjective. Diagnostic accuracy and reliability of assessing ciliary function have not been robustly evaluated. We aimed to establish the accuracy of HSVA to diagnose PCD compared with a combination of tests, and to assess the interobserver reliability of HSVA analysis. METHODS: We randomly selected and anonymized archived videos from 120 patients seen at three UK PCD centers. Three experienced scientists independently reviewed six videos per patient, using a standardized proforma, blinded to diagnostic and clinical data. We compared study outcomes with two references: (1) a combination of diagnostic tests in accordance with the European Respiratory Society PCD diagnostic guidelines and (2) original clinical outcome determined by all available diagnostic tests. RESULTS: HSVA had excellent sensitivity and specificity to diagnose PCD: (1) 100% and 96%, respectively, compared with ERS guidelines, and (2) 96% and 91% compared with diagnostic outcomes. There was high interobserver agreement for "PCD-positive" outcomes (κ = 0.7). CONCLUSIONS: Specialist scientists accurately diagnosed PCD using HSVA, with high interobserver agreement. HSVA can be reliably used to counsel patients and commence treatment on the day of testing while awaiting confirmatory investigations.


Assuntos
Síndrome de Kartagener/diagnóstico , Microscopia Eletrônica de Transmissão/métodos , Microscopia de Vídeo/métodos , Cílios/patologia , Estudos de Coortes , Feminino , Humanos , Síndrome de Kartagener/fisiopatologia , Masculino , Variações Dependentes do Observador , Estudos Retrospectivos , Sensibilidade e Especificidade , Índice de Gravidade de Doença
12.
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
13.
Swiss Med Wkly ; 1492019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30691261

RESUMO

Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. For this reason, the Swiss Primary Ciliary Dyskinesia Registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. We describe the objectives and methodology of the CH-PCD, present initial results, and give an overview of current and ongoing projects. The registry records patients of any age, suffering from PCD, who are treated and resident in Switzerland. It collects information from patients identified through physicians, diagnostic facilities and patient organisations. The registry dataset contains data on diagnostic evaluations, lung function, microbiology and imaging, symptoms, treatments and hospitalisations. By May 2018, CH-PCD has contacted 566 physicians of different specialties and identified 134 patients with PCD. At present, this number represents an overall 1 in 63,000 prevalence of people diagnosed with PCD in Switzerland. Prevalence differs by age and region; it is highest in children and adults younger than 30 years, and in Espace Mittelland. The median age of patients in the registry is 25 years (range 5­73), and 41 patients have a definite PCD diagnosis based on recent international guidelines. Data from CH-PCD are contributed to international collaborative studies and the registry facilitates patient identification for nested studies. CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland. Trial registration number: NCT03606200


Assuntos
Síndrome de Kartagener/epidemiologia , Doenças Raras , Sistema de Registros , Adulto , Cílios/ultraestrutura , Feminino , Humanos , Síndrome de Kartagener/diagnóstico , Masculino , Pediatria , Prevalência , Pneumologistas , Suíça/epidemiologia
14.
Intern Med J ; 48(10): 1252-1254, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30288904

RESUMO

Primary ciliary dyskinesia is an uncommon, inherited condition causing progressive suppurative airway lung disease with subsequent bronchiectasis, chronic rhinitis-sinusitis, deafness and reduced fertility. Diagnosis is often delayed by lack of awareness of the condition in the medical community and limited access to the few centres in Australia able to do full diagnostic testing. This report details the late diagnosis of primary ciliary dyskinesia in two adults who have had long-standing interactions with medical services but in whom the diagnosis was never considered or even dismissed. Greater awareness of the condition will reduce time to diagnosis, prevent administration of ineffective therapy and allow earlier institution of targeted therapy.


Assuntos
Síndrome de Kartagener/diagnóstico , Administração dos Cuidados ao Paciente/métodos , Adulto , Idade de Início , Austrália , Diagnóstico Tardio , Diagnóstico Diferencial , Feminino , Aconselhamento Genético , Humanos , Síndrome de Kartagener/genética , Síndrome de Kartagener/fisiopatologia , Masculino , Pessoa de Meia-Idade , Depuração Mucociliar/fisiologia , Encaminhamento e Consulta , Irmãos
16.
PLoS One ; 13(10): e0205422, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30300419

RESUMO

Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.


Assuntos
Variação Genética , Síndrome de Kartagener/diagnóstico , Adolescente , Adulto , Dineínas do Axonema/química , Dineínas do Axonema/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Mutação da Fase de Leitura , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Síndrome de Kartagener/genética , Masculino , Proteínas dos Microtúbulos/genética , Proteínas Associadas aos Microtúbulos/genética , Estrutura Terciária de Proteína , Análise de Sequência de DNA , Adulto Jovem
17.
BMJ Case Rep ; 20182018 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-30209139

RESUMO

Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD.


Assuntos
Síndrome de Kartagener/diagnóstico , Proteínas/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Diagnóstico Tardio , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Pulmão/patologia , Mutação , Pneumonectomia , Tomografia Computadorizada por Raios X
19.
Am J Respir Crit Care Med ; 197(12): e24-e39, 2018 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-29905515

RESUMO

BACKGROUND: This document presents the American Thoracic Society clinical practice guidelines for the diagnosis of primary ciliary dyskinesia (PCD). TARGET AUDIENCE: Clinicians investigating adult and pediatric patients for possible PCD. METHODS: Systematic reviews and, when appropriate, meta-analyses were conducted to summarize all available evidence pertinent to our clinical questions. Evidence was assessed using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach for diagnosis and discussed by a multidisciplinary panel with expertise in PCD. Predetermined conflict-of-interest management strategies were applied, and recommendations were formulated, written, and graded exclusively by the nonconflicted panelists. Three conflicted individuals were also prohibited from writing, editing, or providing feedback on the relevant sections of the manuscript. RESULTS: After considering diagnostic test accuracy, confidence in the estimates for each diagnostic test, relative importance of test results studied, desirable and undesirable direct consequences of each diagnostic test, downstream consequences of each diagnostic test result, patient values and preferences, costs, feasibility, acceptability, and implications for health equity, the panel made recommendations for or against the use of specific diagnostic tests as compared with using the current reference standard (transmission electron microscopy and/or genetic testing) for the diagnosis of PCD. CONCLUSIONS: The panel formulated and provided a rationale for the direction as well as for the strength of each recommendation to establish the diagnosis of PCD.


Assuntos
Cílios/patologia , Técnicas e Procedimentos Diagnósticos/normas , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Guias de Prática Clínica como Assunto , Estudos de Coortes , Estudos Transversais , Predisposição Genética para Doença , Humanos , Estudos Prospectivos , Estudos Retrospectivos , Sensibilidade e Especificidade , Sociedades Médicas , Estados Unidos
20.
Chest ; 154(3): 645-652, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29800551

RESUMO

Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies. Patients with primary ciliary dyskinesia have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, left-right laterality defects, and infertility. In recent years, our understanding of the genetics of primary ciliary dyskinesia has rapidly advanced. A growing number of disease-associated genes and pathogenic mutations have been identified, which encode axonemal, cytoplasmic, and regulatory proteins involved in the assembly, structure, and function of motile cilia. Our knowledge of cilia genetics and the function of the proteins encoded has led to a greater understanding of the clinical manifestations of motile ciliopathies. These advances have changed our approach toward diagnostic testing for primary ciliary dyskinesia. In this review, we will describe how new insights into genetics have allowed us to define the clinical features of primary ciliary dyskinesia, revolutionize diagnostics, and reveal previously unrecognized genotype-phenotype relationships in primary ciliary dyskinesia.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Testes Genéticos , Genótipo , Humanos , Fenótipo
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