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1.
Neumol. pediátr. (En línea) ; 14(2): 95-99, jul. 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1015014

RESUMO

The diagnosis of primary ciliary dyskinesia (PCD) is complex and requires high clinical suspicion. The findings in the diagnostic images are nonspecific and can be seen in other conditions of the airway. In this review, we will describe the findings of PCD in chest radiography and computed tomography, with emphasis on some of the characteristics that differentiate it from cystic fibrosis and we will review the role of CT in the monitoring of changes of the PCD, since the CT findings correlate very well with the structural changes that occur in the course of PCD, especially bronchiectasis. However, using serial CTs should be decided on a case-by-case basis to avoid unnecessary radiation because they are pediatric patients.


El diagnóstico de la Discinesia ciliar primaria (DCP) es complejo y requiere alta sospecha clínica. Los hallazgos en la imágenes diagnósticas son inespecíficos y se pueden ver en otras afecciones de la vía aérea. En esta revisión describiremos los hallazgos de la DCP en Radiología simple y en Tomografía computada (TC), con énfasis en algunas de las características que permiten diferenciarla de la Fibrosis quística (FQ) y revisaremos el rol de la TC en la monitorización de la DCP ya que los hallazgos en la TC se correlacionan muy bien con los cambios estructurales que ocurren en el curso de la DCP, en especial las bronquiectasias. Sin embargo usar TC seriadas se debe decidir caso por caso para evitar la radiación innecesaria por ser pacientes pediátricos.


Assuntos
Humanos , Criança , Sistema Respiratório/metabolismo , Síndrome de Kartagener/fisiopatologia , Pulmão/diagnóstico por imagem , Sistema Respiratório/fisiopatologia , Sistema Respiratório/patologia , Espectroscopia de Ressonância Magnética , Tomografia Computadorizada por Raios X/métodos , Síndrome de Kartagener/metabolismo , Síndrome de Kartagener/microbiologia , Pulmão/metabolismo , Pulmão/patologia
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.
BMC Pulm Med ; 18(1): 194, 2018 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-30563485

RESUMO

BACKGROUND: The present study aimed to develop an automated computed tomography (CT) score based on the CT quantification of high-attenuating lung structures, in order to provide a quantitative assessment of lung structural abnormalities in patients with Primary Ciliary Dyskinesia (PCD). METHODS: Adult (≥18 years) PCD patients who underwent both chest CT and spirometry within a 6-month period were retrospectively included. Commercially available lung segmentation software was used to isolate the lungs from the mediastinum and chest wall and obtain histograms of lung density. CT-density scores were calculated using fixed and adapted thresholds based on various combinations of histogram characteristics, such as mean lung density (MLD), skewness, and standard deviation (SD). Additionally, visual scoring using the Bhalla score was performed by 2 independent radiologists. Correlations between CT scores, forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were evaluated. RESULTS: Sixty-two adult patients with PCD were included. Of all histogram characteristics, those showing good positive or negative correlations to both FEV1 and FVC were SD (R = - 0.63 and - 0.67; p < 0.001) and Skewness (R = 0.67 and 0.67; p < 0.001). Among all evaluated thresholds, the CT-density score based on MLD + 1SD provided the best negative correlation with both FEV1 (R = - 0.68; p < 0.001) and FVC (R = - 0.71; p < 0.001), close to the correlations of the visual score (R = - 0.60; p < 0.001 for FEV1 and R = - 0.62; p < 0.001, for FVC). CONCLUSIONS: Automated CT scoring of lung structural abnormalities lung in primary ciliary dyskinesia is feasible and may prove useful for evaluation of disease severity in the clinic and in clinical trials.


Assuntos
Transtornos da Motilidade Ciliar/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador , Síndrome de Kartagener/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/fisiopatologia , Feminino , Volume Expiratório Forçado , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/fisiopatologia , Pneumopatias/etiologia , Pneumopatias/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Capacidade Vital , Adulto Jovem
6.
Eur J Pediatr ; 177(5): 765-773, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29487997

RESUMO

Primary ciliary dyskinesia (PCD) restricts lifestyle and increases morbidity. The aim of the study was to investigate anaerobic and aerobic performance in children with PCD and their healthy counterparts. Thirty-one children with PCD and 29 age- and sex-matched healthy subjects were studied. Pulmonary function, hand grip strength (HGS), quadriceps strength (QMS), physical activity, anaerobic capacity (muscle power sprint test), and aerobic performance (modified shuttle walk test (MSWT)) were determined. Pulmonary function, HGS, QMS, mean anaerobic power (MAP), and MSWT distance in PCD were significantly lower than those of healthy subjects (p < 0.05). In PCD, the MAP was significantly correlated with age, FEV1, and the mean kcal for 3 days (p < 0.05), and age was its independent predictor (p < 0.05). The MSWT distance was significantly related to gender and weight (p < 0.05), and gender was selected as its independent predictor (p < 0.05). In healthy controls, the MAP was significantly associated with age, gender, FVC, FEV1, HGS, QMS, and the mean kcal for three days (p < 0.05). The MSWT distance was significantly related to weight and body mass index in healthy group (p < 0.05). CONCLUSION: Anaerobic and aerobic performance is impaired in PCD from the early stages. Age determines anaerobic performance. Gender is the determinant of aerobic performance. Whether skeletal muscle characteristics and sex-related changes in body composition affect anaerobic and aerobic capacity in PCD children warrants further study. What is Known: • Exercise performance is determined by anaerobic and aerobic power. • Few studies have shown that PCD patients have lower aerobic performance which is associated with impaired lung function. What is New: • The present research indicated that both anaerobic and aerobic exercise capacity determined using field testing is impaired in PCD from the early stages. • Anaerobic capacity was found to be independently associated with age in PCD. Higher aerobic performance is independently associated with male gender.


Assuntos
Tolerância ao Exercício/fisiologia , Síndrome de Kartagener/fisiopatologia , Pulmão/fisiopatologia , Força Muscular/fisiologia , Adolescente , Criança , Teste de Esforço/métodos , Feminino , Humanos , Masculino , Músculo Esquelético/fisiopatologia , Consumo de Oxigênio/fisiologia , Aptidão Física/fisiologia , Espirometria/métodos
7.
Zhonghua Er Ke Za Zhi ; 56(2): 134-137, 2018 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-29429202

RESUMO

Objective: To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Methods: Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. Related literatures on gene variation of PCD in Chinese were reviewed from Online Mendelian Inheritance in Man, Human Gene Mutation Database, PubMed and CNKI up to July 2017 by using search terms of "PCD" , "gene" , "Chinese". Results: There were one male and two females aged from 10 to 11 years. The common symptoms included recurrent respiratory infection, sinusitis and bronchiectasis. Two of them had situs inversus. Case 1 had lack of outer and inner dynein arms with compound heterozygous mutation of LRRC6. Case 2 had outer and inner dynein arms defects with heterozygous mutations of DNAH5 and DNAH11. Case 3 had abnormality in microtubule and inner dynein arms with homozygous mutation of CCDC39. All the variations mentioned above have not been reported before. Twelve cases have been reported about gene variations in PCD in Chinese from eight reports. All these patients had recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis. Nine of them had dextrocardia. Four cases have taken an effective nasal (or bronchial) mucosal biopsy. 1 case had inner and outer dynein arms defects. One case had inner dynein arms and radial spokes defects. One case had microtubule and central pair defects. And 1 case had normal cilia ultrastructure. Eight kinds of gene variations were found. Three cases had gene variations of DNAH5. 2 cases had gene variations of DYX1C1. 2 cases had gene variations of CCNO. There was 1 case with gene variations of CCDC39, CCDC40, HYDIN, ARMC4 and DNAI1 separately. Conclusions: Recurrent respiratory infection starting soon after birth, rhinosinusitis, and bronchiectasis are the common symptoms of PCD. Eleven of fifteen Chinese PCD patients with positive gene mutations were Kartagener syndrome. Cilia ultrastructure showed defects of inner and outer dynein arms, radial spokes, microtubule and central pair. Ten kinds of gene variations were found: DNAH5, DYX1C1, CCNO, CCDC39, CCDC40, HYDIN, ARMC4, DNAI1, LRRC6、DNAH11.


Assuntos
Cílios/fisiologia , Variação Genética , Síndrome de Kartagener/genética , Síndrome de Kartagener/fisiopatologia , Criança , Feminino , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Masculino , Mutação
8.
Respir Physiol Neurobiol ; 251: 1-7, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29366817

RESUMO

Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) both entail bronchiectasis and pulmonary impairment as measured using spirometry, during childhood. We aimed at looking whether blood gas exchanges progressed differently between CF and PCD children in a retrospective study of repeated measurements. Comparisons between groups (Wilcoxon-Mann-Whitney and Chi-squared tests) and a mixed linear model, adjusted for age, evaluated associations between diseases and PaO2, PaCO2, or PaO2-PaCO2 ratio. Among 42 PCD and 73 CF children, 62% and 59% had respectively bronchiectasis (P = 0.75). Spirometry and blood gases were similar at inclusion (PaO2 median [IQR] PCD -1.80 [-3.40; -0.40]; CF -1.80 [-4.20; 0.60] z-scores; P = 0.72). PaO2 and PaO2-PaCO2 ratio similarly and significantly decreased with age in both groups (P < 0.01) whereas PaCO2 increased more in CF (P = 0.02) remaining within the range of normal (except for one child). To conclude, gas exchange characteristics, similarly initially impaired in PCD and CF children, tended to less deteriorate with time in PCD children who could benefit from an early diagnosis.


Assuntos
Fibrose Cística/fisiopatologia , Síndrome de Kartagener/fisiopatologia , Troca Gasosa Pulmonar/fisiologia , Adolescente , Gasometria , Criança , Pré-Escolar , Feminino , Volume Expiratório Forçado/fisiologia , Humanos , Lactente , Estudos Longitudinais , Pulmão/fisiopatologia , Masculino , Estudos Retrospectivos , Espirometria , Capacidade Vital/fisiologia
9.
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
10.
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
11.
Vestn Otorinolaringol ; 82(5): 61-63, 2017.
Artigo em Russo | MEDLINE | ID: mdl-29072668

RESUMO

This article reports a rare observation of the development of chronic polypous pansinusitis with deformation of the external nose in a 8 year-old child presenting with primary ciliary dyskinesia syndrome. The patient underwent multiple surgical interventions in the preceding period. The key argument in favour of the definitive diagnosis was the results of investigation of ciliated epithelium biopsy taken from the nasal cavity and bronchi in combination with the data obtained by diagnostic endoscopy of the nasal cavity and nasopharynx supplemented by computed tomography. The proposed treatment strategy including endoscopic endonasal pansinusotomy, antibacterial therapy taking into consideration the sensitivity of the seeded microorganism, and hormonal therapy proved optimal for the management of the given patient.


Assuntos
Síndrome de Kartagener , Pólipos Nasais , Deformidades Adquiridas Nasais , Procedimentos Cirúrgicos Otorrinolaringológicos , Infecções por Pseudomonas , Pseudomonas aeruginosa/isolamento & purificação , Sinusite , Antibacterianos/administração & dosagem , Biópsia/métodos , Criança , Endoscopia/métodos , Feminino , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Depuração Mucociliar , Mucosa Nasal/patologia , Pólipos Nasais/diagnóstico , Pólipos Nasais/etiologia , Pólipos Nasais/fisiopatologia , Pólipos Nasais/cirurgia , Deformidades Adquiridas Nasais/etiologia , Deformidades Adquiridas Nasais/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos/efeitos adversos , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/tratamento farmacológico , Reoperação/métodos , Sinusite/diagnóstico , Sinusite/microbiologia , Sinusite/fisiopatologia , Sinusite/cirurgia , Tomografia Computadorizada Espiral/métodos , Resultado do Tratamento
12.
Eur Respir J ; 50(3)2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28890436

RESUMO

Non-typeable Haemophilus influenzae (NTHi) is the most common pathogen in primary ciliary dyskinesia (PCD) patients. We hypothesised that abnormal ciliary motility and low airway nitric oxide (NO) levels on airway epithelial cells from PCD patients might be permissive for NTHi colonisation and biofilm development.We used a primary epithelial cell co-culture model to investigate NTHi infection. Primary airway epithelial cells from PCD and non-PCD patients were differentiated to ciliation using an air-liquid interface culture and then co-cultured with NTHi.NTHi adherence was greater on PCD epithelial cells compared to non-PCD cells (p<0.05) and the distribution of NTHi on PCD epithelium showed more aggregated NTHi in biofilms (p<0.001). Apart from defective ciliary motility, PCD cells did not significantly differ from non-PCD epithelial cells in the degree of ciliation and epithelial integrity or in cytokine, LL-37 and NO production. Treatment of PCD epithelia using exogenous NO and antibiotic significantly reduced NTHi viability in biofilms compared with antibiotic treatment alone.Impaired ciliary function was the primary defect in PCD airway epithelium underlying susceptibility to NTHi biofilm development compared with non-PCD epithelium. Although NO responses were similar, use of targeted NO with antibiotics enhanced killing of NTHi in biofilms, suggesting a novel therapeutic approach.


Assuntos
Células Epiteliais/microbiologia , Infecções por Haemophilus/fisiopatologia , Síndrome de Kartagener/microbiologia , Óxido Nítrico/farmacologia , Adolescente , Adulto , Antibacterianos/farmacologia , Aderência Bacteriana , Proteínas de Bactérias/metabolismo , Biofilmes/crescimento & desenvolvimento , Estudos de Casos e Controles , Criança , Pré-Escolar , Citocinas/metabolismo , Feminino , Haemophilus influenzae/patogenicidade , Haemophilus influenzae/fisiologia , Humanos , Síndrome de Kartagener/fisiopatologia , Masculino , Pessoa de Meia-Idade , Cultura Primária de Células , Adulto Jovem
13.
Respir Med ; 131: 241-246, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28947038

RESUMO

BACKGROUND: Airway infections in Primary Ciliary Dyskinesia (PCD) are caused by different microorganisms, including pseudomonas aeruginosa (PA). The aim of this study was to investigate the association of PA colonization and the progression of lung disease in PCD. METHODS: Data from 11PCD centers were retrospectively collected from 2008 to 2013. Patients were considered colonized if PA grew on at least two separate sputum cultures; otherwise, they were classified as non-colonized. These two groups were compared on the lung function computed tomography (CT) Brody score and other clinical parameters. RESULTS: Data were available from 217 patients; 60 (27.6%) of whom were assigned to the colonized group. Patients colonized with PA were older and were diagnosed at a later age. Baseline forced expiratory volume at 1 s (FEV1) was lower in the colonized group (72.4 ± 22.0 vs. 80.1 ± 18.9, % predicted, p = 0.015), but FEV1 declined throughout the study period was similar in both groups. The colonized group had significantly worse CT-Brody scores (36.07 ± 24.38 vs. 25.56 ± 24.2, p = 0.034). A subgroup analysis with more stringent definitions of colonization revealed similar results. CONCLUSIONS: Lung PA colonization in PCD is associated with more severe disease as shown by the FEV1 and CT score. However, the magnitude of decline in pulmonary function was similar in colonized and non-colonized PCD patients.


Assuntos
Portador Sadio/fisiopatologia , Síndrome de Kartagener/microbiologia , Infecções por Pseudomonas/fisiopatologia , Pseudomonas aeruginosa , Escarro/microbiologia , Adolescente , Adulto , Idoso , Portador Sadio/diagnóstico por imagem , Criança , Pré-Escolar , Progressão da Doença , Feminino , Volume Expiratório Forçado , Humanos , Lactente , Recém-Nascido , Síndrome de Kartagener/diagnóstico por imagem , Síndrome de Kartagener/fisiopatologia , Masculino , Pessoa de Meia-Idade , Infecções por Pseudomonas/diagnóstico por imagem , Estudos Retrospectivos , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X , Adulto Jovem
14.
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
15.
Respir Med ; 124: 49-56, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28284321

RESUMO

BACKGROUND: The balance between matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) is important in the regulation of airway damage. OBJECTIVE: To evaluate whether they are important in the pathophysiology of primary and secondary ciliary dyskinesia (PCD, SCD). METHODS: We measured sputum bacteriology, lung CT changes, MMPs, TIMPs and lung function in 86 patients (51 PCD, 35 SCD) in a cross-sectional study; the 10 controls studied did not have HRCT or sputum cultures. MMPs, TIMPs and lung function were evaluated longitudinally for up to one year in 38 PCD patients. RESULTS: At baseline, there were no differences in MMPs, TIMPs and MMPs/TIMPs, between PCD and SCD but lower levels were found in controls. There was an association between poorer lung function with increasing levels of MMPs in PCD, while in SCD only MMP-9/TIMP-1 values correlated with FRC z-scores. Levels of MMPs and TIMPs significantly correlated with severity HRCT changes. Longitudinally, there were significant correlations between slope of changes in spirometric parameters and slope of change in sputum MMPs in PCD patients. CONCLUSIONS: In conclusion, we report for the first time that increased MMPs are associated with worse airway damage in PCD and SCD, and thus are potential therapeutic targets.


Assuntos
Remodelação das Vias Aéreas , Síndrome de Kartagener/fisiopatologia , Pulmão/diagnóstico por imagem , Metaloproteinases da Matriz/metabolismo , Sistema Respiratório/metabolismo , Inibidor Tecidual de Metaloproteinase-1/metabolismo , Adolescente , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Síndrome de Kartagener/metabolismo , Síndrome de Kartagener/microbiologia , Pulmão/metabolismo , Pulmão/patologia , Masculino , Metaloproteinase 9 da Matriz/metabolismo , Pessoa de Meia-Idade , Estudos Prospectivos , Testes de Função Respiratória/métodos , Sistema Respiratório/patologia , Sistema Respiratório/fisiopatologia , Escarro/microbiologia , Tomografia Computadorizada por Raios X/métodos , Adulto Jovem
16.
Ann Otol Rhinol Laryngol ; 126(4): 322-327, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28290230

RESUMO

OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. METHODS: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and throat manifestations (ENT) and any surgical treatments. The ENT objectivity was annotated, and then patients were subjected to audiometric test, tympanometry, registration of otoacoustic emission, and vestibular evaluation. RESULTS: Otitis media with chronic middle ear effusion (OME) during childhood was reported in 52% of the subjects, no patient had undergone ear surgery, and only 2 patients had an episode of otitis in the last year. Eleven of 23 patients showed normal hearing, 11 had a conductive hearing impairment, and 1 showed a severe sensorineural hearing loss unrelated to the syndrome. The bilateral stapedial reflex was only found in all cases of normoacusia and type A tympanogram, distortion product otoacoustic emissions (DPOAE) were present in 8 patients, and no patient had vestibular alterations. CONCLUSION: Our study confirms a very frequent prevalence of OME in PCD during childhood. Careful monitoring of otological complications of the syndrome is always desirable, also given the high presence in adults of other manifestations in the upper airways, such as chronic rhinosinusitis and nasal polyposis.


Assuntos
Perda Auditiva Condutiva/epidemiologia , Síndrome de Kartagener/epidemiologia , Miringoesclerose/epidemiologia , Otite Média com Derrame/epidemiologia , Testes de Impedância Acústica , Adulto , Audiometria de Tons Puros , Doença Crônica , Feminino , Perda Auditiva Condutiva/fisiopatologia , Humanos , Síndrome de Kartagener/fisiopatologia , Masculino , Pessoa de Meia-Idade , Emissões Otoacústicas Espontâneas/fisiologia , Prevalência , Reflexo/fisiologia , Estapédio/fisiopatologia
17.
Thorax ; 72(9): 832-839, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28246220

RESUMO

BACKGROUND: Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability, validity and responsiveness to change. METHODS: Seventy-two adults (mean (range) age: 33 years (18-79 years); mean (range) FEV1% predicted: 68 (26-115)) with PCD completed the 49-item QOL-PCD and generic QOL measures: Short-Form 36 Health Survey, Sino-Nasal Outcome Test 20 (SNOT-20) and St George Respiratory Questionnaire (SGRQ)-C. Thirty-five participants repeated QOL-PCD 10-14 days later to measure stability or reproducibility of the measure. RESULTS: Multitrait analysis was used to evaluate how the items loaded on 10 hypothesised scales: physical, emotional, role and social functioning, treatment burden, vitality, health perceptions, upper respiratory symptoms, lower respiratory symptoms and ears and hearing symptoms. This analysis of item-to-total correlations led to 9 items being dropped; the validated measure now comprises 40 items. Each scale had excellent internal consistency (Cronbach's α: 0.74 to 0.94). Two-week test-retest demonstrated stability for all scales (intraclass coefficients 0.73 to 0.96). Significant correlations were obtained between QOL-PCD scores and age and FEV1. Strong relationships were also found between QOL-PCD scales and similar constructs on generic questionnaires, for example, lower respiratory symptoms and SGRQ-C (r=0.72, p<0.001), while weak correlations were found between measures of different constructs. CONCLUSIONS: QOL-PCD has demonstrated good internal consistency, test-retest reliability, convergent and divergent validity. QOL-PCD offers a promising tool for evaluating new therapies and for measuring symptoms, functioning and QOL during routine care.


Assuntos
Síndrome de Kartagener/reabilitação , Qualidade de Vida , Adolescente , Adulto , Distribuição por Idade , Idoso , Emprego/estatística & dados numéricos , Feminino , Volume Expiratório Forçado/fisiologia , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/psicologia , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Doenças Respiratórias/etiologia , Distribuição por Sexo , Inquéritos e Questionários , Adulto Jovem
18.
Eur Respir J ; 49(2)2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-28232410

RESUMO

Hypertonic saline inhalation lowers airway mucous viscosity. Increased cough transportability may improve quality of life (QoL) in primary ciliary dyskinesia (PCD).In this randomised controlled trial (RCT), PCD patients received twice-daily inhalations of hypertonic (7%) saline or isotonic (0.9%) saline for 12 weeks, with 4 weeks washout during crossover. Primary outcome was change in QoL measured by the St George's Respiratory Questionnaire (SGRQ) total score. Secondary outcomes were SGRQ subscores, Quality of Life Questionnaire-Bronchiectasis (QoL-B) scores, lower respiratory tract infection symptoms, exacerbations, spirometry, systemic and sputum inflammatory markers, adherence, and adverse events.There was no significant change in median (interquartile range) SGRQ total score between hypertonic saline (-2.6 (-9.0-1.5)) and isotonic saline (-0.3 (-8.1-6.1)) in 22 patients (age range 22-73 years) (p=0.38). QoL-B Health Perception scale improved with hypertonic saline (p=0.03). Adverse events occurred more frequently with hypertonic saline, but were mild.12 weeks of inhaled hypertonic saline did not improve SGRQ total score in adult PCD patients in this RCT, but the sample size was small. On the secondary and more disease-specific end-point of the QoL-B, a significant improvement was observed in the Health Perception scale. This study found little evidence to support the hypothesis that hypertonic saline improves QoL in PCD patients. We advise the use of disease-specific outcome measures in future trials.


Assuntos
Síndrome de Kartagener/tratamento farmacológico , Síndrome de Kartagener/fisiopatologia , Depuração Mucociliar/efeitos dos fármacos , Qualidade de Vida , Solução Salina Hipertônica/administração & dosagem , Administração por Inalação , Adulto , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Índice de Gravidade de Doença , Espirometria , Escarro/microbiologia , Inquéritos e Questionários
19.
Eur Respir J ; 49(1)2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-28052956

RESUMO

Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format.As of April 2016 the iPCD Cohort includes data on 3013 patients from 18 countries. It includes data on diagnostic evaluations, symptoms, lung function, growth and treatments. Longitudinal data are currently available for 542 patients. The extent of clinical details per patient varies between centres. More than 50% of patients have a definite PCD diagnosis based on recent guidelines. Children aged 10-19 years are the largest age group, followed by younger children (≤9 years) and young adults (20-29 years).This is the largest observational PCD dataset available to date. It will allow us to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments, and to investigate genotype-phenotype correlations.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Metanálise como Assunto , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Estudos Retrospectivos , Literatura de Revisão como Assunto , Índice de Gravidade de Doença , Adulto Jovem
20.
Eur Respir J ; 49(1)2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-28122863

RESUMO

The lung clearance index (LCI) derived from a nitrogen multiple breath washout test (N2-MBW) is a promising tool to assess small airways disease in primary ciliary dyskinesia, but it is difficult to apply in routine clinical settings because of its long measuring time. In this study, we aimed to assess alternative indices derived from shorter washout protocols.49 patients with primary ciliary dyskinesia (mean age 14.7±6.6 years) and 37 controls (mean age 14.3±1.4 years) performed N2-MBW and double-tracer gas (DTG) single-breath washout tests. Global (LCI and moment ratio (M2/M0)), conductive (Scond) and acinar ventilation inhomogeneity (DTG Slope III (SIII-DTG)) were determined for each individual. The main outcomes were 1) the ability to detect abnormal lung function from washout indices (>1.64 z-scores) and 2) measurement duration.The prevalence of abnormal values for LCI2.5% was 37 out of 47 (79%), for LCI5% was 34 out of 47 (72%), for M2/M0 was 34 out of 47 (72%), for Scond was 36 out of 46 (78%) and for SIII-DTG was 12 out of 35 (34%). Mean±sd duration of measurement was 19.8±11.2 min for LCI2.5%, 10.8±4.6 min for LCI5% and 8.6±2.3 min for ScondCompared to standard LCI2.5%, ventilation inhomogeneity was detected by LCI5%, moment ratio and Scond with comparable sensitivity while measurement duration was significantly shorter. Longitudinal studies will show which outcome is most suitable and practical in terms of sensitivity, duration and variability within the course of primary ciliary dyskinesia lung disease.


Assuntos
Hélio , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Hexafluoreto de Enxofre , Adolescente , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Alemanha , Humanos , Modelos Lineares , Masculino , Ventilação Pulmonar , Respiração , Espirometria , Suíça , Adulto Jovem
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