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

Outcomes of Endoscopic Sinus Surgery for Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia

Abstract Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with impairment of mucociliary transport and, consequently, with a high incidence of chronic rhinosinusitis. For patients with chronic rhinosinusitis who remain symptomatic despite medical treatment, endoscopic sinus surgery is a safe and effective therapeutic option. However, to date, no studies have been found evaluating the effect of surgery on the quality of life associated with the effect on olfaction and nasal endoscopy findings of patients with primary ciliary dyskinesia and chronic rhinosinusitis. Objective To describe the effect of endoscopic sinus surgery on the quality of life, on olfaction, and on nasal endoscopy findings of adults with PCD and chronic rhinosinusitis. Methods Four patients who underwent endoscopic sinus surgery were included. The Sinonasal Outcome Test-22 (SNOT-22) score, the Nasal Obstruction Symptom Evaluation (NOSE) questionnaire, and the Lund-Kennedy score were collected preoperatively and at 3 and 6 months postoperatively. The olfaction as assessed with the University of Pennsylvania Smell Identification Test (UPSIT), which was administered preoperatively and 3 months postoperatively. Results A total of 4 patients with a mean age of 39.3 years old (3 men and 1 woman) completed the study. All patients showed clinically significant improvement in the SNOT-22, NOSE, and Lund-Kennedy scores at 3 months postoperatively, and this improvement was sustained throughout the follow-up period. However, olfaction did not improve after surgery. Conclusion The endoscopic sinus surgery treatment of chronic rhinosinusitis in adults with PCD was associated with improvement in quality of life and endoscopic findings. However, no improvement in olfaction was demonstrated. Studies with a larger number of patients and control groups should help confirm these findings.

Computed Tomography Evaluation of the Paranasal Sinuses in Adults with Primary Ciliary Dyskinesia

Abstract Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints. Aplasia/hypoplasia of the frontal and sphenoid sinuses has been described as more frequent in this population. However, to date, no studies have provided a detailed description of computed tomography findings in adult patients with a diagnosis of this condition. Objective To describe the computed tomography (CT) findings of adult patients with primary ciliary dyskinesia. Methods Retrospective observational study of adult patients with primary ciliary dyskinesia who underwent CT. Results Twenty-one adults were included in the study. Aplasia occurred in 38.1% of frontal sinuses and in 14.3% of sphenoid sinuses. Likewise, hypoplasia occurred in 47.6% of the frontal sinuses, in 54.8% of the sphenoid sinuses and in 40.5% of the maxillary sinuses. Furthermore, trabecular loss was identified in 61.9% ethmoidal sinuses. The mean Lund-Mackay score was 13.5. In addition, 9.5% of the patients had concha bullosa, 47.6% had marked bilateral inferior turbinate hypertrophy, 38.1% had marked middle turbinate hypertrophy, and 47.6% had marked septal deviation. Finally, we identified images suggestive of fungus ball, mucocele, osteoma, a possible antrochoanal polyp, and frontal bone erosions. Conclusion The present study provides a detailed description of CT findings in patients with primary ciliary dyskinesia. We also describe abnormalities that must be identified for safer surgical planning and that suggest a diagnosis of primary ciliary dyskinesia if found in patients with a consistent clinical picture.

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.

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.

Microtubular Dysfunction and Male Infertility

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.

Caso Clínico: Discinesia Ciliar Primaria (Síndrome de Kartagener) / Clinical Case Report: Primary Ciliary Dyskinesia (Kartagener's Syndrom

INTRODUCCIÓN: La discinesia ciliar primaria es un trastorno hereditario autosómico recesivo, que afecta la función de las células ciliadas y se caracteriza por infecciones respiratorias a repetición y afecta tanto al tracto respiratorio superior e inferior, puede asociarse con trastornos de la lateralidad orgánica (síndrome de Kartagener), infertilidad y en algunos casos malformaciones. No existe un tratamiento específico; sin embargo, se tratan las infecciones agudas y se realiza seguimiento de la función pulmonar como en el caso clínico que se presenta a continuación. CASO CLÍNICO: Se trata de una mujer de 28 años, con antecedentes de dextrocardia, sinusitis, otitis, bronquitis y neumonías a repetición, asmática, con rinorrea mucoide crónica, que acudió por cuadro persistente de tos productiva y disnea de moderados esfuerzos. Al examen físico destacó: saturación de 80% con FIO2: 21%, cianosis discreta, ruidos cardiacos audibles en hemitórax derecho con reforzamiento del segundo ruido, estertores difusos y frémito aumentado. En la espirometría se detectó patrón obstructivo ­ restrictivo severo, la tomografía demostró la presencia de sinusitis maxilar y esfenoidal, dextrocardia, bronquiectasias e infiltrados difusos, poliesplenia, hepatomegalia e hígado en herradura. Se diagnosticó de síndrome de Kartagener (por dextrocardia, sinusitis y bronquiectasias). EVOLUCIÓN: Durante la estancia hospitalaria la paciente permaneció sin requerimientos de oxígeno suplementario y afebril. Recibió tratamiento antibiótico, corticoides inhalatorios y salbutamol. Se explicó a la paciente y sus familiares la benignidad de la enfermedad y el requerimiento de controles rigurosos por consulta externa. El diagnóstico definitivo por microscopía electrónica no fue realizado por falta de recursos a nivel local. CONCLUSIÓN: La discinesia ciliar primaria por lo general tiene un curso evolutivo de carácter benigno, al ser una enfermedad poco conocida su diagnóstico es tardío. La discinesia ciliar primaria debe ser considera dentro de los diagnósticos diferenciales de un paciente que presenta infecciones respiratorias a repetición.(au)

BACKGROUND: Primary ciliary dyskinesia is an inherited autosomal recessive disorder, which affects the function of ciliated cells and is characterized by recurrent upper and lower respiratory infections. It may be associated with organic laterality disorders (Kartagener syndrome), infertility and in some cases malformations. There is no specific treatment; however, acute infections management and pulmonary function surveillance is recommended, as presented in the case report. CASE REPORT: 28-year-old woman with a history of dextrocardia, sinusitis, otitis, bronchitis and recurrent pneumonia, asthmatic, with chronic mucoid rhinorrhea and recurrent episodes of productive cough and dyspnea. Physical examination revealed an oxygen saturation of 80% at room air, discrete cyanosis, and audible cardiac sounds in the right hemithorax with reinforcement of the second noise, diffuse rales and increased thrill. Pulmonary function test was positive for a severe obstructive - restrictive pattern, computed tomography revealed the presence of maxillary and sphenoid sinusitis, dextrocardia, bronchiectasis, polysplenia hepatomegaly and horseshoe liver. The diagnosis of Kartagener syndrome was made (due to dextrocardia, sinusitis and bronchiectasis). EVOLUTION: During the hospital stay the patient remained without oxygen requirements, she received antibiotic treatment plus corticosteroids and salbutamol. Patient education was carried out, indicating the benignity of the disease and the requirement of close monitoring. Definitive diagnosis by electron microscopy was not available. CONCLUSION: Primary ciliary dyskinesia usually has a benign course of evolution; being an uncommon disease, diagnosis is usually late. Primary ciliary dyskinesia should be considered within the differential diagnosis of patients with recurrent respiratory infection(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.

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)

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.

Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review / 中华儿科杂志

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.

Progress in the diagnosis and treatment of Kartagener syndrome in children / 国际儿科学杂志

Kartagener syndrome is a rare autosomal recessive disease with low incidence.Clinically,typical visceral inversion,bronchiectasis and sinusitis triad are typical.The pathogenesis of the disease is not clear.The principle of treatment is mainly symptomatic treatment,postponing the progress of bronchiectasis,Lack of fundamental treatment.The disease generally has a good prognosis.This article reviews recent advances in the diagnosis and treatment of Kartagener syndrome at home and abroad.

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>.

Genetic factors contributing to human primary ciliary dyskinesia and Male infertility / 亚洲男科学杂志(英文版)

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular genetic testing is not considered the standard of care. Here, we provide an update of the progress on the identification of genetic factors related to PCD associated with male infertility, summarizing the underlying molecular mechanisms, and discuss the clinical implications of these findings. Further research in this field will impact the diagnostic strategy for male infertility, enabling clinicians to provide patients with informed genetic counseling, and help to adopt the best course of treatment for developing directly targeted personalized medicine.

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.