Síndrome de Kartagener y artritis reumatoide. Reporte de caso / Kartagener Syndrome and Rheumatoid Arthritis. Case Report

Presentación del caso. Se trata de una mujer de 26 años de edad, en seguimiento por la especialidad de reumatología desde los 17 años, cuando consultó con historia de un año de evolución de síndrome poliarticular de grandes y pequeñas articulaciones, aditivo, simétrico acompañado de fatiga, rigidez matutina mayor de una hora. Se reportó además factor reumatoide positivo. La radiografía de ambas manos presentó erosiones, que confirmó el diagnóstico de artritis reumatoide. Adicionalmente, la paciente tenía el antecedente de procesos sinobronquiales a repetición desde su infancia. En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los estudios de imágenes, que permitió concluir en el diagnóstico de síndrome de Kartagener. Intervención terapéutica. La paciente presentaba actividad clínica severa de la artritis reumatoide, se inició el tratamiento con metotrexato 10 mg vía oral un día a la semana, prednisona 5 mg al día y ácido fólico 5 mg a la semana y citas periódicas, controlando los datos de actividad y efectos adversos de los medicamentos, con pruebas hepáticas, hemograma y transaminasas. La especialidad de neumología recomendó la inclusión de la paciente en un programa de rehabilitación respiratoria, así como el uso de azitromicina 500 mg cada día por tres días en los períodos de agudización. Evolución clínica. El tratamiento logró mantener una actividad leve de la artritis reumatoide y sin exacerbación de los síntomas respiratorios

Case presentation. A 26-year-old woman, under follow-up by the rheumatology specialty since she was 17 years old, when she consulted with a history of one year of evolution of polyarticular disease of large and small joints, additive, symmetrical, accompanied by fatigue and morning stiffness for more than one hour. Positive rheumatoid factor was also reported. Additionally, the patient had a history of repeated sinobronchial processes since childhood. Medical examination revealed sinus pain in the paranasal sinuses, dextrocardia, and bronchiectasis, confirmed by imaging studies, which led to the diagnosis of Kartagener's syndrome. Treatment. The patient presented the severe clinical activity of rheumatoid arthritis. The treatment was started with methotrexate 10 mg orally one day a week, prednisone 5 mg a day, and folic acid 5 mg a week and periodic appointments, controlling the activity data and adverse effects of the drugs, with liver tests, hemogram, and transaminases. The pneumology department recommended the inclusion of the patient in a respiratory rehabilitation program as well as the use of azithromycin 500 mg every day for three days during periods of exacerbation. Outcome. The treatment was successful in maintaining a mild activity of the rheumatoid arthritis and without exacerbation of respiratory symptoms

Cross-sectional evaluation of the saccharin transit time test for primary ciliary dyskinesia: did we discard this tool too soon?

ABSTRACT BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare and heterogeneous disease that is difficult to diagnose and requires complex and expensive diagnostic tools. The saccharin transit time test is a simple and inexpensive tool that may assist in screening patients with PCD. OBJECTIVES: This study aimed to compare changes in the electron microscopy findings with clinical variables and saccharin tests in individuals diagnosed with clinical PCD (cPCD) and a control group. DESIGN AND SETTING: An observational cross-sectional study was conducted in an otorhinolaryngology outpatient clinic from August 2012 to April 2021. METHOD: Patients with cPCD underwent clinical screening questionnaires, nasal endoscopy, the saccharin transit time test, and nasal biopsy for transmission electron microscopy. RESULTS: Thirty-four patients with cPCD were evaluated. The most prevalent clinical comorbidities in the cPCD group were recurrent pneumonia, bronchiectasis, and chronic rhinosinusitis. Electron microscopy confirmed the clinical diagnosis of PCD in 16 of the 34 (47.1%) patients. CONCLUSION: The saccharin test could assist in screening patients with PCD due to its association with clinical alterations related to PCD.

Kartagener's syndrome: a case report

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.

Pathogenesis and treatment of primary ciliary dyskinesia / 中国医师杂志

Bronchiectasis refers to irreversible enlargement and thickening of the wall of the terminal bronchi,including destruction of the bronchial wall muscles and elastic supporting tissues.It can be caused by infection,physiochemical,immunological or genetic and so on.The pathogenesis and treatment of hereditary bronchiectasis,especially primary ciliary dyskinesia (PCD),has attracted much attention in recent years.In this paper,the classification of bronchiectasis and the pathogenesis and treatment of PCD are discussed.The pathogenesis and treatment of hereditary bronchiectasis are described.

Diagnosis of primary ciliary dyskinesia / Diagnóstico de discinesia ciliar primária

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

Discinesia ciliar primária (DCP) é uma doença genética que compromete a estrutura e/ou a função ciliar, causando retenção de muco e bactérias no trato respiratório e levando a infecções crônicas nas vias aéreas superiores e inferiores, defeitos de lateralidade visceral e problemas de fertilidade. Revisamos os sinais e sintomas respiratórios da DCP, os testes de triagem e a investigação diagnóstica, bem como detalhes relacionados ao estudo da função, ultraestrutura e genética ciliar. Descrevemos também as dificuldades em diagnosticar a DCP por meio de microscopia eletrônica de transmissão, bem como o seguimento dos pacientes.

Aplicação de um protocolo fisioterapêutico na síndrome de Kartagener: estudo de caso / Application of a protocol on physiotherapeutic Kartagener Syndrome: a case study

A Síndrome Kartagener é uma doença autossômica recessiva rara que se caracteriza por situs inversus e discinesia ciliar, Além disso essa enfermidade pode desencadear sinusite paranasal e bronquiectasia. Desse modo, o objetivo deste estudo foi avaliar a evolução das variáveis ventilatórias, da força muscular respiratória e da capacidade funcional submáxima de uma paciente com 27 anos e diagnóstico clínico de Síndrome de Kartagener, submetida a fisioterapia respiratória. O protocolo fisioterapêutico implementado constou de 10 sessões, duas vezes por semana, por meio de treinamento muscular inspiratório (Threshold IMT®), reeducação diafragmática, manobras de higiene brônquica, exercícios respiratórios e treinamento dinâmico de membros inferiores. As variáveis analisadas antes e após o protocolo foram, pico de fluxo expiratório, pressões respiratórias máximas (PImáx e PEmáx), teste de caminhada de seis minutos (TC6?) e cirtometria toracoabdominal. De acordo com o presente estudo, concluiu-se que houve melhora dos resultados das variáveis analisadas, demonstrando a importância da intervenção fisioterapêutica, podendo auxiliar na diminuição das recidivas do processo infeccioso.

The Kartagener Syndrome is a rare recessive autosomal illness, which is characterized by situs inversus and ciliarydyskinesia, and this can trigger paranasal sinusitis and bronquiectasis. The objective of this study was to evaluate the variables ventilatory, respiratory muscle strength and submaximal functional capacity in patient of 27 years with clinical diagnosis of Kartagener Syndrome submitted a respiratory therapy. The physical therapy protocol implemented consisted of 10 sessions, twice a week, including inspiratory muscle training (Threshold IMT®), diaphragmatic training, bronchial hygiene maneuvers, breathing exercises and dynamic training of the lower limbs. The treatment was performed in the physiotherapy clinic of a university hospital . The variables analyzed before and after the protocol were: peak expiratory flow, maximal respiratory pressures (MIP and MEP), 6-min walk test (6MWT) and thoracoabdominal circumference measurements. According to this study we concluded that there was an improvement of results of variables, demonstrating the importance of physical therapy intervention, it can help in reducing the recurrence of the infectious process.

Discinesia ciliar primária: quando o pediatra deve suspeitar e como diagnosticar?: [revisão] / Primary ciliary dyskinesia: when the pediatrician must suspect and how to do the diagnosis?: [review]

OBJETIVO: Revisar a discinesia ciliar primária (DCP) quanto aos seus aspectos ultra-estruturais, discriminar os defeitos ciliares primários dos secundários, descrever o quadro clínico, os testes laboratoriais de triagem e de diagnóstico disponíveis, bem como seu manejo clínico. FONTE DE DADOS: Pesquisa nas bases de dados Medline, Lilacs e SciELO, no período de 1980 a 2007. SÍNTESE DOS DADOS: A DCP é uma doença autossômica recessiva que compromete a estrutura e/ou a função ciliar e, conseqüentemente, o transporte mucociliar. As manifestações clínicas envolvem o trato respiratório superior e inferior, com infecções recorrentes do ouvido médio, seios paranasais e pulmonares, que podem evoluir para bronquiectasias. Outras manifestações incluem situs inversus totalis e infertilidade masculina. O diagnóstico deve ser suspeitado pelos pediatras em várias situações: recém-nascidos de termo com desconforto respiratório sem causa aparente; neonatos portadores de dextrocardia; lactentes com tosse persistente e/ou infecções otorrinolaringológicas de repetição, excluindo-se as imunodeficiências e a fibrose cística; crianças com asma atípica e as com bronquiectasias sem causa definida. Os testes de triagem diagnóstica são os da sacarina e do óxido nítrico nasal. As avaliações do defeito ultra-estrutural e funcional exigem análise por microscopia eletrônica e da freqüência e formato da onda de batimento ciliar. CONCLUSÕES: A DCP, apesar da baixa prevalência, é pouco diagnosticada pelas dificuldades de estabelecer o diagnóstico definitivo do defeito ciliar devido à complexidade da investigação laboratorial e pela falta de reconhecimento da doença pelos médicos. A suspeita clínica e o diagnóstico precoce são fundamentais para reduzir a morbidade e prevenir o desenvolvimento de complicações.

OBJECTIVE: To review primary ciliary dyskinesia (PCD) and its ultrastructural aspects, to differentiate primary from secondary ciliary defects and to describe the clinical features, screening and diagnostic laboratorial tests, and the clinical management of this disorder. DATA SOURCES: A bibliographical search was obtained from Medline, Lilacs and SciELO databases, from 1980 to 2007. DATA SYNTHESIS: PCD is an autossomic recessive disorder with abnormal structure and/or function of the cilia, leading to reduced mucociliary clearance. The clinical manifestations include upper and lower respiratory tracts, with recurrent ear, sinus and lung infections that may progress to bronchiectasis. Situs inversus and male infertility are other clinical features of this disorder. PCD should be suspected by pediatricians in the following clinical situations: full term neonates with respiratory distress without apparent causes, presence of dextrocardia, infants with chronic cough and/or recurrent upper airways infections in the absence of immunodeficiency and cystic fibrosis, children with atypical asthma and bronchiectasis without a definitive cause. The diagnostic screening tests are the saccharine and nasal nitric oxide tests. Functional and ultrastructural evaluations demand an electronic microscopic analysis and the observation of the frequency and the pattern of the ciliary movement. CONCLUSIONS: Although the prevalence of PCD is low, the difficulties in establishing the diagnosis due to the complex investigations demanded and the unfamiliarity of the disease by physicians lead to underdiagnosis. Early diagnosis and treatment of PCD are essential to reduce the morbidity and to avoid complications.

Disquinecia ciliar primaria: reporte de caso / Primary cilliar dyskinesia: case report

Disquinesia Ciliar Primaria (también llamada Síndrome de Cilia Inmóvil) se caracteriza por tos crónica, rinitis y sinusitis crónica. Cuando situs inversus, sinusitis crónica y bronquiectasias ocurren al mismo tiempo, se conoce como Síndrome de Kartagener, el cual tiene una prevalencia de 1 en 40.000 a 60.000. La Disquinesia Ciliar Primaria se hereda de manera autosómica recesiva y es un síndrome altamente heterogéneo. El rasgo de situs inversus aparentemente tiene un elemento de determinación al azar. Hay variaciones considerables en la presentación clínica, aunque lo más frecuente son infecciones respiratorias recurrentes y sinusitis; también se pueden presentar alteraciones en el Sistema Nervioso Central, y el aparato reproductor, entre otros. Actualmente, no están disponibles medidas terapéuticas específicas para corregir la disfunción ciliar. Es por esto que el manejo debe ser sintomático e incluir principalmente medidas preventivas. La progresión es variable y algunas personas viven una vida casi normal. Se presenta el caso de una paciente con antecedentes de situs inverso, la cual presenta síntomas respiratorios con poca mejoría a tratamientos anteriores. Luego de hacerle los estudios hematológicos e imagenológicos se llega al diagnóstico de un síndrome de Kartager.

Primary ciliary dyskinesia (also known as Syndrome of Ciliary Motility Disorders), is characterized by chronic cough, rhinitis and chronic sinusitis. When situs inversus, chronic sinusitis, and bronchiectasis are present at the same time, that triad is known as Kartagener syndrome. It has a prevalence of 1:40 000 to 1:60 000. The primary cilliar dyskinesia is inherited in an autosomic recessive form and it’s a highly heterogeneous syndrome. The situs inversus feature apparently has a randomdetermination. There are variations in the clinical presentation, although the respiratory tract infections are the most common as well as sinusitis; it could also be found alteration in reproductive and central nervous system, among others. At present there are nospecific therapeutic ways to correct the cilliar dysfunction. That’s why the treatment is symptomatic and prophylactic. Progression is variable and some people with the syndrome could have an almost normal life. Here is presented the case of a patient with situs inversus, who presents respiratory symptoms and little response to previous treatments. After some imaging and some hematological studies, the kartagener syndrome diagnosis is made.

Discinesia ciliar primária: considerações sobre seis casos da síndrome de Kartagener / Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome

A discinesia ciliar primária (DCP), anteriormente conhecida como síndrome dos cílios imóveis, é uma doença hereditária autossômica recessiva que inclui vários padrões de defeitos em sua ultra-estrutura ciliar. Sua forma clínica mais grave é a síndrome de Kartagener (SK), a qual é encontrada em 50 por cento dos casos de DCP. A DCP causa deficiência ou mesmo estase no transporte de secreções em todo o trato respiratório, favorecendo a proliferação de vírus e bactérias. Sua incidência varia de 1:20.000 a 1:60.000. Como conseqüência, os pacientes apresentam infecções crônicas e repetidas desde a infância e geralmente são portadores de bronquite, pneumonia, hemoptise, sinusite e infertilidade. As bronquiectasias e outras infecções crônicas podem ser o resultado final das alterações irreversíveis dos brônquios, podendo progredir para cor pulmonale crônico e suas conseqüências. Somente a metade dos pacientes afetados pela DCP apresenta todos os sintomas, condição denominada SK completa; no restante, não ocorre situs inversus, condição denominada SK incompleta. O diagnóstico é feito com base no quadro clínico e confirmado por meio da microscopia eletrônica de transmissão. Como não há tratamento especifico para a DCP, recomenda-se que, tão logo seja feito o diagnóstico, as infecções secundárias sejam tratadas com antibióticos potentes e medidas profiláticas sejam adotadas. Neste trabalho, relatamos seis casos de DCP (cinco casos de SK completa e um caso de SK incompleta) e revisamos a literatura sobre o assunto, tendo como foco os aspectos diagnósticos, terapêuticos e clínicos desta doença.

Primary ciliary dyskinesia (PCD), previously known as immotile cilia syndrome, is an autosomal recessive hereditary disease that includes various patterns of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50 percent of all cases of PCD. The incidence of PCD ranges from 1:20,000 to 1:60,000. Since PCD causes deficiency or even stasis of the transport of secretions throughout the respiratory tract, it favors the growth of viruses and bacteria. As a result, patients have lifelong chronic and recurrent infections, typically suffering from bronchitis, pneumonia, hemoptysis, sinusitis, and infertility. Bronchiectasis and other chronic conditions infections can be the end result of the irreversible bronchial alterations, leading to chronic cor pulmonale and its consequences. Only half of the patients affected by PDC present all of the symptoms, a condition designated complete KS, compared with incomplete KS, typically defined as cases in which situs inversus does not occur. The diagnosis is made clinically and confirmed through transmission electron microscopy. Since there is no specific therapy for PCD, it is recommended that, upon diagnosis, secondary infections be treated with potent antibiotics and prophylactic interventions be implemented. In this paper, we report six cases of PCD (five cases of complete KS and one case of KS) and review the related literature, focusing on the diagnostic, therapeutic and clinical aspects of this disease.

Disquinesia ciliar: diagnóstico ultraestructural, evolución clínica y alternativas de tratamiento / Clinical and ultrastructural features of ciliary dyskinesia

Background: Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. Aim: To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Patients and Methods: Retrospective review of medical records and electron microscopy findings of 33 patients (aged 1 to 21 years, 14 females) with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done. Results: In 30 patients (90 percent) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66 percent) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57 percent) presented recurrent otitis media, 25 patients (77 percent), three or more episodes of rhinosinusitis and 18 patients (56 percent) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57 percent), and during its use, 12 (68 percent) remained without othorrea. Sixteen patients (48 percent) with recurrent episodes of rhinosinusitis required adenoidectomy Seven (21 percent) required a functional endoscopic sinus surgery (FESS), and 6 (86 percent) improved after FESS. Conclusions: Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otol¢gica! and rhinosinusal infections, IDA was absent in a high percentage of cilia. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD.

Chemotaxis of Blood Neutrophils from Patients with Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is characterized by chronic upper and lower respiratory infections which are caused by the grossly impaired ciliary transport. Since the cilia and neutrophils both utilize microtubular system for their movement, it has been speculated that neutrophil motility such as chemotaxis might be impaired in patients with primary ciliary dyskinesia. Neutrophils were purified from whole blood from 16 patients with primary ciliary dyskinesia and from 15 healthy controls. Chemotactic responses of neutrophils to leukotriene B4 (LTB4), complement 5a (C5a), and formylmethion-ylleucylphenylalanine (fMLP) were examined using the under agarose method. The chemotactic differentials in response to LTB4, C5a, and fMLP in neutrophils from the patient group were significantly lower than the corresponding values in neutrophils from the control group (p<0.05 for all comparisons). The difference in chemotactic index between the two groups was statistically significant for LTB4 and fMLP (p<0.05 for both comparisons), but not for C5a (p=0.20). Neutrophils from patients with primary ciliary dyskinesia showed a decreased chemotactic response as compared with those from normal subjects. It is concluded that the increased frequency of respiratory tract infection in patients with primary ciliary dyskinesia is possibly due to the defective directional migration of neutrophils, as well as to the defective mucociliary clearance of the airways.