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

Actinomyces y síndrome de Kartagener: Reporte de caso y revisión de la literatura / Actinomyces and Kartagener syndrome: Case report and literature review

RESUMEN El síndrome de Kartagener, el cual hace parte del subgrupo de las discinesias ciliares primarias predispone a infecciones respiratorias recurrentes del tracto respiratorio por Haemophilus influenzae, Staphylococcus aureus y Streptococcus pneumoniae. Se describe a continuación el caso de un paciente con diagnóstico de síndrome de Kartagener en quien se documentó colonización por Pseudomonas fluorescens y neumonía con empiema asociado por Actinomyces spp, una asociación poco frecuente en la literatura.

ABSTRACT Kartagener syndrome, which is part of the subgroup of the primary ciliary dyskinesias, predisposes to recurrent respiratory tract infections due to Haemophilus influenzae, Staphylococcus aureus and Streptococcus pneumoniae. The case of a patient with a diagnosis of Kartagener syndrome in whom colonization by Pseudomonas fluorescens and pneumonia complicated with empyema by Actinomyces spp is a rare association in the literature, which is described below.

Imágenes diagnósticas en el estudio del compromiso pulmonar de la discinesia ciliar primaria en niños / Chest imaging in study of primary ciliary dyskinesia in children

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.

Síndrome de Kartagener / Kartagener Syndrome

Introducción: El síndrome de Kartagener es una variación clínica de la discinesia ciliar primaria, se caracteriza por la triada clásica de sinusitis crónica, bronquiectasia y situs inversus (total o parcial), catalogada como enfermedad rara de herencia autosómica recesiva. Objetivo: Analizar las manifestaciones clínicas, análisis complementarios y tratamiento de los pacientes diagnosticados con síndrome de Kartagener en la República del Ecuador. Presentación de caso: Paciente femenina, de nacionalidad ecuatoriana, con manifestaciones clínicas de la tríada del síndrome de Kartagener y rasgo de infertilidad, con antecedente de sinusitis crónica desde 14 años de edad. Los estudios imagenológicos de rayos X de tórax y tomografía axial computarizada de tórax y senos paranasales confirmaron las manifestaciones de síndrome de Kartagener, que representa el séptimo caso reportado en el país. Se analizaronn las características clínicas de la serie de siete casos reportados en el Ecuador hasta el presente, correspondiente al período 2015-2018 y exámenes complementarios realizados para el diagnóstico de certeza y diferencial. Conclusiones: Se presentó el séptimo caso de síndrome de Kartagener diagnosticado en el Ecuador y se analizó la serie de una totalidad de 7 pacientes reportados en el país entre 2015-2018(AU)

Introduction: Kartagener syndrome is a clinical variation of primary ciliary dyskinesia, characterized by the classic triad of chronic sinusitis, bronchiectasis and situs inversus (total or partial), classified as a rare autosomal recessive inheritance disease. Objective: To analyze the clinical manifestations, complementary tests and treatment of patients diagnosed with Kartagener syndrome in the Republic of Ecuador. Case presentation: Female patient, of Ecuadorian nationality, with clinical manifestations of the Kartagener syndrome triad and infertility trait, with a history of chronic sinusitis since 14 years of age. Imaging studies of thorax, x-rays and computed tomography of chest and paranasal sinuses confirmed the manifestations of Kartagener syndrome, which represents the seventh case reported in the country. Respiratory evolution and therapeutic management are exposed. In this context, we analyze the clinical characteristics of the series of seven cases reported in Ecuador up to the present, corresponding to the period 2015-2018 and complementary tests performed for the certainty and differential diagnosis. Conclusions: The seventh case of Kartagener syndrome diagnosed in Ecuador is presented, and the series of a totality of 7 patients reported in the country between 2015-2018 is analyzed(AU)

Síndrome de Kartagener: diagnóstico neonatal. A propósito de un caso / Kartagener syndrome: neonatal diagnosis. A case report

El síndrome de Kartagener es una enfermedad hereditaria autosómica recesiva caracterizada por la asociación de discinesia ciliar primaria y la tríada situs inversus total, sinusitis crónicas y bronquiectasias. Su prevalencia varía en 1/15 000-1/30 000, pero se estima que muchos pacientes con discinesia ciliar primaria no han sido diagnosticados. Su presentación clínica es inespecífica y heterogénea, y no hay una única prueba gold standard para su diagnóstico. Esto, unido a las limitaciones y no disponibilidad de las pruebas, hace que el diagnóstico se retrase. Un diagnóstico y tratamiento adecuados de forma precoz modifican el pronóstico. En los últimos años, las sociedades han publicado algoritmos diagnósticos para pacientes con clínica sugestiva. Por ello, es importante una puesta al día y enfatizar en la necesidad de una sospecha clínica ante las manifestaciones clínicas de esta enfermedad. Se presenta a un recién nacido con este síndrome diagnosticado por estudio genético en un hospital secundario.

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.

Translation of the quality-of-life measure for adults with primary ciliary dyskinesia and its application in patients in Brazil / Tradução do questionário de qualidade de vida para pacientes adultos com discinesia ciliar primária no Brasil

ABSTRACT Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked. Studies have shown that PCD has a significant impact on the lives of patients, although there are as yet no PCD-specific markers of quality of life. To address that problem, researchers in the United Kingdom developed a quality-of-life questionnaire for patients with PCD. The present communication focuses on the process of translating that questionnaire into Brazilian Portuguese, through a partnership between researchers in Brazil and those in the United Kingdom, as well as its subsequent application in patients in Brazil.

RESUMO A discinesia ciliar primária (DCP) é uma doença genética de origem comumente autossômica recessiva. Caracteriza-se clinicamente por infecções respiratórias de repetição; porém, a repercussão na qualidade de vida desses pacientes deve ser levada em consideração. Estudos têm demonstrado um importante impacto da doença nesse quesito, mas ainda faltam marcadores de qualidade de vida específicos para DCP. Nesse sentido, foi desenvolvido o questionário de qualidade de vida em pacientes com DCP. O presente comunicado versa sobre o processo de tradução do questionário desenvolvido no Reino Unido para o português falado no Brasil através de uma parceria entre pesquisadores do Brasil e Reino Unido e sua posterior aplicação a pacientes brasileiros.

Kartagener syndrome, current data on a classical disease. case report

ABSTRACT Introduction: This article addresses the general aspects (pathophysiology, embryology, clinical presentation and prognosis) of the Kartagener syndrome (KS). Case presentation: 26-year-old male patient, with a history of complicated sinusitis with cerebral abscess and secondary epilepsy, who consulted to the Hospital Universitario Nacional de Colombia due to headache, fever and mucus expectoration. The presence of situs inversus, chronic sinusitis and bronchiectasis suggested a diagnosis of primary ciliary dyskinesia and KS. Discussion: Differential diagnoses of KS should be framed in its possible causal relationship with primary ciliary dyskinesia and other diagnoses associated with secondary ciliary dysfunction, such as cystic fibrosis, immunodeficiency and anatomical-functional conditions with rhinosenopulmonary involvement. Clinical suspicion of KS occurs when the heart is auscultated on the right and the liver is palpated on the left. Confirmation is achieved through imaging methods that prove visceral heterotaxia, indirect methods related to scan of ciliary malfunction (nasal nitric oxide, video microscopy) and ciliary biopsy that demonstrates the defect of the ciliary ultrastructure. Conclusions: Respiratory infectious involvement in patients with KS is explained by the alteration of the cilia, which leads both to the malposition of some organs and to the structural and functional alteration of others.

RESUMEN Introducción. El presente artículo aborda los aspectos generales (fisiopatología, embriología, presentación clínica y pronóstico) del síndrome de Kartagener (SK). Presentación del caso. Paciente masculino de 26 años, con antecedente de sinusitis complicada con absceso cerebral y epilepsia secundaria, quien consulta al Hospital Universitario Nacional de Colombia por cefalea, fiebre y expectoración mucosa. La presencia de situs inverso, sinusitis crónica y bronquiectasias sugieren diagnóstico de discinesia ciliar primaria y SK. Discusión. Los diagnósticos diferenciales del SK deben enmarcarse en la relación de causalidad posible con la discinesia ciliar primaria y de otros diagnósticos asociados a disfunción ciliar secundaria como fibrosis quística, inmunodeficiencia y condiciones anatómicas-funcionales con compromiso rinosenopulmonar. La sospecha clínica del SK se da cuando se ausculta el corazón a la derecha y se palpa el hígado a la izquierda. Su confirmación es mediante métodos de imagen que comprueban la heterotaxia visceral, por métodos indirectos de mal funcionamiento del barrido ciliar (óxido nítrico nasal, video microscopia) y por biopsia ciliar que demuestra el defecto de la ultraestructura ciliar. Conclusiones. El compromiso infeccioso respiratorio presentado por los pacientes que cursan con SK se explica por la alteración en la cilia, que conlleva tanto a la malposición de algunos órganos como a la alteración estructural y funcional de otros.

Síndrome de Kartagener: reporte de caso / Kartagener syndrome: case report

El Síndrome de Kartagener es una enfermedad autosómica recesiva, caracterizada por discinesia ciliar primaria la cual consiste en la disfunción de las células ciliadas. Esta es la causa de la manifestación de la sintomatología respiratoria que presenta este síndrome: tos, sinusitis, otitis media y bronquiectasias. Otra sintomatología que acompaña a este síndrome son infertilidad y situs inversus. El reconocimiento de esta enfermedad data desde los principios del siglo XX y se constituye en síndrome gracias a la descripción de 4 casos clínicos, por Manes Kartagener, neumólogo que trabajaba en Zurich, quien describió por primera vez en 1933 la triada característica de este síndrome: sinusitis crónica, bronquiectasias y situs inversus. Paciente femenina de 35 años con antecedentes de infecciones del tracto respiratorio superior e inferior a repetición desde la infancia, se presenta a la emergencia del Hospital Mario Catarino Rivas con un episodio infeccioso grave de las vías respiratorias. Durante su estadía hospitalaria se confirma dextrocardia y situs inversus por medio de estudios radiológicos por lo que se confirma el diagnostico de Sindrome de Kartagener. El síndrome de Kartagener que se caracteriza por la triada clásica de sinusitis crónica, bronquiectasias y situs inversus. En el curso de su presentación clínica se espera encontrar infecciones a repetición del tracto respiratorio superior e inferior, gracias al compromiso de la movilidad ciliar normalmente encargada de la remoción de patógenos ambientales, a largo plazo se espera el desarrollo de las dilataciones bronquiales a consecuencia del cúmulo de material mucoide y la reacción inflamatoria local.

Kartagener's syndrome is an autosomal recessive disease, characterized by primary ciliary dyskinesia, which consists of ciliated cell dysfunction. This is the cause of the manifestation of the respiratory symptomatology that presents this syndrome-cough, sinusitis, and bronchiectasis. Another symptomatology that accompanies this syndrome are infertility and situs inversus. Its recognition from the early XX century, and constitutes syndrome thanks to the description of 4 clinical cases by Manes Kartagener, a pulmonologist who worked in Zurich and first described the triad of sinusitis, bronchiectasis and situs inversus in 1933. A 35-year-old female patient with a history of dextrocardia, repeated respiratory infections, and inadequate response to previous treatments, is presented to the Emergency Hospital Mario Catarino Rivas. Kartagener syndrome characterized by the classic triad of chronic sinusitis, bronchiectasis and situs inversus. During clinical presentation expect to find recurring upper and lower respiratory tract, thanks to the commitment of mobility infections ciliciar normally responsible for the removal of environmental pathogens, expected long-term development of bronchial dilation because of accumulation of mucoid material and local inflammatory reaction.

Situs inversus totalis: revisión de tema con aproximación a la Genética y reporte de casos / Situs inversus totalis, topic review approach to Genetics and case report

Resumen Objetivo: Efectuar una revisión actualizada del situs inversus totalis y presentar casos clínicos. Métodos: Se hizo una revisión de las principales bases de datos y se incluyeron los estudios más relevantes correspondientes a 20 a˜nos previos, en espa˜nol e inglés, en todos los grupos etáreos y étnicos, incluidos: metaanálisis, revisiones sistemáticas, ensayos clínicos, estudios de cohorte y casos clínicos relevantes. Se consultaron bases de datos como EBSCO, Medline, PubMed y SciELO entre otras, para obtener información actualizada. Los términos de búsqueda fueron situs inversus, totalis. Resultados: El situs inversus totalis es una variante anatómica poco frecuente que involucra estructuras toraco-abdominales, hace parte de otras variantes de situs, tiene un patrón de herencia poligénico, sin una relación directa establecida; es además una entidad asintomática, reconocida desde tiempos antiguos. Conclusiones: Aunque es una patología de baja incidencia en la población, y un hallazgo incidental, es importante reconocerla como una variante anatómica que puede cursar con patologías concomitantes. A pesar de que existen estudios, se requieren otros con alta significancia estadística. Se encuentra relación de los casos con la información de la literatura que concluyen un estudio acertado.

Abstract Objective: To conduct an updated review of situs inversus totalis and present clinical cases. Methods: A review of the main databases was conducted, and the most relevant studies over the last 20 years were included, both in Spanish and English, in all age and ethnic groups, including: meta-analysis, systematic reviews, clinical trials, cohort studies and relevant clinical cases. Databases such as EBSCO, Medline, PubMed and SciELO were consulted among others to obtain updated information. Search terms were ''situs inversus'', ''totalis''. Results: Situs inversus totalis is a rare anatomical variant that involves thoracoabdominal structures, takes part in other situs variants, has a polygenic inheritance pattern, without a direct established relationship; is also an asymptomatic entity, recognised since ancient times. Conclusion: Despite being a condition with a low incidence in the population and having an incidental finding, it is important to recognise it as an anatomical variant that can coexist with concomitant diseases. Although studies exist, more are required with a higher statistical significance. A relationship is found between the cases with the information found in the literature, which leads to a strong research</org>.

Síndrome de Kartagener: reporte de un caso y revisión de la literatura / Kartagener syndrome: case report and literature review

El síndrome de Kartagener es una enfermedad autosómica recesiva poco frecuente (uno de cada 32.000 nacimientos), caracterizada por la tríada de bronquiectasias, sinusitis crónica y situs tnversus. El artículo presenta el caso de un hombre de veinticuatro años de edad con dicha enfermedad, a partir del cual se revisa su fisiopatología, las estrategias diagnósticas y terapéuticas y su pronóstico.

Kartagener syndrome us a rare autosomal recessive disease (one ¿n every 32,000 births), oharactenzed by a triad of bronchiectasis, chroníc sinusitis and situs mversus. We present the case of a 24'veai'old male with this disease and we review the pathophysiology, prognosis as well as the main diagnostic and therapeutic strategies.

Síndrome de Kartagener en una adolescente / Kartagener syndrome in an adolescent

Se describe el caso clínico de una adolescente de 12 años de edad, quien presentaba infecciones respiratorias repetidas y obstrucción bronquial, con un situs inversus, bronquiectasia y sinusitis, además de cuadros recurrentes de neumonía, bronquitis e hiperreactividad bronquial. Teniendo en cuenta estas particularidades y los resultados de los exámenes complementarios efectuados, incluidas la tomografía axial computarizada y la radiografía de tórax, se diagnosticó el síndrome de Kartagener. Por lo infrecuente de su presentación se comparten estos hallazgos con la comunidad científica en general.

The case report of a 12 year female adolescent who presented repeated breathing infections and bronchial obstruction, with a situs inversus, bronquiectasia and sinusitis is described; as well as recurrent pneumonia, bronchitis and bronchial hiperreactivity patterns. Taking into account these particularities and the complementary tests results, including the computed tomographic scan and the thorax x-ray, the Kartagener syndrome was diagnosed. Due to the uncommon of its presentation these findings are shared with the scientific community in general.

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.

Discinesia ciliar primaria / Primary ciliary dyskinesia

Se presenta el caso de una niña de 7 años con el síndrome de Kartagener, con manifestaciones clínicas desde el nacimiento características de las afectaciones primarias de la motilidad ciliar: distrés respiratorio neonatal, rinosinusitis, otitis y bronquitis crónica, así como atelectasias y neumonía recurrente. Se destaca el carácter hereditario autosómico recesivo, la posibilidad de manifestaciones o malformaciones en otros aparatos o sistemas, en el niño o sus familiares. Como el diagnóstico temprano tiene un efecto significativo en la calidad de vida, y es una afección de difícil diagnóstico, se enfatiza en la necesidad de una sospecha clínica ante las manifestaciones características de una discinesia ciliar primaria, sobre todo, en niños con situs inversus.

A seven-year old patient with Kartagener syndrome and clinical manifestations at birth that characterize the primary effects of ciliary motility such as neonatal respiratory distress, rhinosinusitis, otitis and chronic bronchitis, atelectasis and recurrent pneumonia. It was underlined that this disease has autosomal recessive inheritance, the possible occurrence of symptoms or malformations in other apparatuses or systems, in the child or his/her relatives. Since the early diagnosis has a significant impact on the quality of life of the individual and this is a difficult-to-diagnose disease, emphasis was made on the need of clinically suspecting the existence of primary ciliary dyskinesia if there are characteristics manifestations of the disease, mainly in children with situs inversus.

Síndrome de Kartagener: reporte de un caso / Kartagener syndrome: a case report

INTRODUCCIÓN: El Síndrome de Kartagener es una enfermedad hereditaria autosómica recesiva, caracterizada por dextrocardia, bronquiectasias, sinusitis crónica e infertilidad; causada por una mutación en el cromosoma 5p, locus de la proteína dineína, componente de cilios de tracto respiratorio y reproductor, lo que resulta en bajo clearance mucociliar y discinesia primaria. La prevalencia es aproximadamente de 1:10.000 individuos. El diagnóstico es clínico con confirmación mediante exámenes de función y estructura ciliar. PRESENTACIÓN DEL CASO: Paciente sexo masculino, 35 años, con antecedente de Síndrome de Kartagener en tratamiento; consulta en Julio de 2011 en Hospital de Lirquén por dolor en la región mamaria izquierda, irradiado a región infraescapular del mismo lado, punzante, intensidad 7/10, comienzo insidioso y tres días de evolución, acompañado de sensación febril, tercianas, diaforesis y tos húmeda con expectoración mucopurulenta. Examen físico: situs inverso en tórax y abdomen. Examen pulmonar: crépitos bilaterales intensificados en base izquierda, estertores difusos y roncus en ambas bases. Examen de extremidades: acropaquia. A través de radiografía de tórax se diagnostica neumonía. Es hospitalizado en el Servicio de Medicina Hombres para manejo con ceftriaxona endovenosa, inmunosupresores y monitoreo. El paciente evolucionó con buena respuesta, por lo que es dado de alta para continuar con antibióticos orales en domicilio. DISCUSIÓN: Las patologías de inmovilidad ciliar afectan el tracto respiratorio y esperma de estos pacientes. Es útil conocer este diagnóstico ya que permitirá buscar y tratar directamente sus complicaciones, además de ayudar al paciente en las consecuencias psicológicas de la infertilidad.

INTRODUCTION: Kartagener Syndrome is an autosomal recessive inherited disease characterized by dextrocardia, bronchiectasias, chronic sinusitis and infertility, caused by a mutation onchoromosome 5p, locus of dynein protein, component of respiratory cilia and reproductive system, resulting in low mucociliar clearance and primary discinesia. The prevalence is 1:10,000. The clinical diagnosis is confirmed by examination of ciliary structure and function. CASE REPORT: Male patient, 35 years old with a history of Kartagener Syndrome in treatment consults in July at Lirquen Hospital for pain in the left breast area, radiating to infrascapular region of the same side, lancing, intensity 7/10, insidious onset and three days duration, accompanied by feeling feverish, diaphoresis, and productive wet cough. Physical exam: situs inversus in the thorax and abdomen. Pulmonary exam: bilateral crepitus intensified in left base, diffuse rales and rhonchi in both bases; Limbs exam: clubbing. Through chest radiograph was diagnosed with pneumonia. Is hospitalized in Men Medicine Service for intravenous ceftriaxone management, inmunosuppresants, and monitoring. The patient has good response to treatment, so it is discharged to continue with oral antibiotics at home. DISCUSSION: The immotile ciliar diseases affect the respiratory tract and sperm of these patients. It helps to know the diagnosis because it will allow search and efficiently treat complications, besides helping the patient in the psychological consequences of infertility. Spirometry is necessary and chest radiography is warranted in this case for evaluation and study of the infectious respiratory disease that the patient debut.

Síndrome de kartagener: bases genéticas y hallazgos clínicos. Reporte de un caso / Kartagener syndrome: genetic bases and clinical findings. A case report

Se presenta el caso de una paciente de 26 años, con cuadros respiratorios altos y bajos a repetición, que cedían con tratamiento sintomático o con el uso de antibióticos por vía oral desde la infancia. A los 25 años de edad, comenzó con episodios de expulsión de sangre roja, areada y rutilante por la boca de diferente cuantía, los que se hicieron cada vez más frecuentes. Por tal motivo, fue ingresada en el Servicio de Neumología del Hospital Neumológico Benéfico Jurídico. En esta ocasión, se le realizó una radiografía simple de tórax postero-anterior, en la que se visualizó una dextrocardia acompañada de una acentuación de la trama broncovascular bibasal. Una historia de infertilidad referida por la paciente, los episodios de pansinusitis recurrentes, los cuadros respiratorios bajos y los hallazgos imagenológicos despertaron la sospecha clínica de una discinesia ciliar primaria y, en especial, de un Síndrome de Kartagener. Nuestro propósito, al presentar este caso, es reflexionar en que, a pesar de ser una enfermedad poco frecuente, en nuestro país y a nivel internacional, es un diagnóstico posible cuando se asocian cuadros de hemoptisis e historia de infertilidad.

This article is a case report of a 26 years old woman with history of high and low respiratory problems to repetition, which yielded with symptomatic treatment or the antibiotic use by oral route from the childhood. When she was 25 years old, she began with episodes of expulsion of red blood, brillant and bubble by the mouth of different quantity; these were made frequent more and more. By such reason she was hospitalized in the service of pneumology of the Benefico Juridico Hospital. In this occasion a simple x-ray of thorax was made to her, in which visualized dextrocardia accompanied of an accentuation of the bibasal broncho-vascular pattern. A history of infertility referred by the patient, the episodes of recurrent pansinusitis, respiratory pictures and the radiologic findings made diagnose of a primary ciliary dyskinesia, specifically Kartagener's syndrome. Our intention with this case is to reflect in that it is a possible diagnosis when pictures of hemoptisis and history of infertility are associated, although in our country and in the rest of the world the frequent of this disease is low.

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.

Avaliação da ultraestrutura e do movimento ciliar em crianças com pneumopatias crônicas e de repetição se diagnóstico definido / Evaluation of the ultrastructure and of the movement of cilia in children with chronic and repetition pneumopathies without a defined diagnosis

INTRODUÇÃO: A discinesia ciliar primária é uma doença genética que se caracteriza pela alteração da ultraestrutura e função do cílio móvel, com consequentes alterações do transporte mucociliar, causando infecções das vias aéreas superiores, inferiores e infertilidade. O diagnóstico, realizado por avaliação da ultraestrutura ou pesquisa de mutação genética, é feito mediante critérios de seleção de pacientes e testes de screening. Esta pesquisa avalia a ultraestrutura e frequência de batimento ciliar, propõe um modelo de investigação de discinesia ciliar primária, e caracteriza os pacientes diagnosticados. MÉTODO: Foi realizado um estudo transversal controlado entre janeiro de 2007 e julho de 2009, no Ambulatório de Pneumologia Pediátrica do Instituto da Criança. Foram selecionadas 28 crianças e adolescentes (6 meses a 19 anos, de ambos os sexos), de uma população de 75 crianças com pneumopatias crônicas e de repetição sem diagnóstico definido, que apresentavam ao menos um dos seguintes achados: bronquiectasia de causa desconhecida, doença de vias aéreas superiores com sintomatologia crônica, infecções pulmonares de repetição, dextrocardia e/ou situs inversus acompanhados de sintomas em vias aéreas superiores e/ou inferiores, e asma de difícil controle com sintomas em vias aéreas superiores e/ou inferiores. A presença de pneumopatias crônicas com diagnóstico definido foi utilizada como critério de exclusão por meio dos seguintes exames: dois testes do suor (exclusão de fibrose cística), tomografia computadorizada do tórax (suspeita de bronquiolite obliterante), dosagem de alfa-1 antitripsina (investigação de déficit de alfa-1 antitripsina), e exames de investigação das imunodeficiências mais frequentes (hemograma, dosagens de imunoglobulinas, contagem de linfócitos T e B, sorologias para avaliação da produção ativa de anticorpos, PPD e HIV). Foi desenvolvido um sistema medição da frequência de batimento ciliar, baseado em análise espectral. Dez adultos...

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a genetic disorder of the ultrastructure and function of mobile cilia, with consequent impairment of mucociliary clearance, leading to upper and lower airways respiratory infection and infertility. The diagnosis, based on ultrastructure evaluation or genetic scan, is performed according to patient selection and screening tests. This research evaluates cilia ultrastructure and beat frequency, proposes a model for investigating primary ciliary dyskinesia, and characterizes the patients diagnosed.METHOD: A controlled and observational study was carried out at the Pediatric Pulmonology Ambulatory of the Instituto da Criança between January 2007 and July 2009. Twenty eight children and teenagers (ages between 6 months and 19 years) were selected, from a population of 75 patients with chronic and repetition pneumopathies without a defined diagnosis, which met at least one of the following inclusion criteria: bronchiectasis of unknown cause, upper respiratory disease with chronic symptoms, repetition pulmonary infections, dextrocardia and/or situs inversus with symptoms in upper and/or lower respiratory airways, and asthma of difficult control with symptoms in upper and/or lower respiratory airways. The presence of cronic pneumopathies with a defined diagnosis was used as exclusion criterion, based on the following exams: two sweat tests (cystic fibrosis exclusion), lung CT scan (bronchiolitis obliterans exclusion), seric levels of alpha-1 anti-trypsin (alpha-1 anti-trypsin deficit evaluation), and evaluation of more frequent immunodeficiency disorders (white blood cells, T and B lymphocytes levels, and sorology tests for humoral immunity, PPD and HIV). A cilia beat frequency measurement system was developed, based on spectral analysis. Ten healthy adult volunteers (ages greater than or equal to 17 years old, of both sexes), without an acute respiratory...

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: 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.

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.