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.

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.

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.

Síndrome de Kartagener (discinesia ciliar primaria tipo 1): Informe de un caso y revisión de la literatura / Kartagener's symdrome (primary cilliar dyskinesia type 1): A case report and literature review

Informe de un caso clínico de síndrome de Kartagener (discinesia ciliar primaria tipo 1), que presentó manifestaciones clínicas de asma, infección crónica recurrente, sinusitis crónica, hipoacusia derecha desde el nacimiento

Cholecystectomy under regional anesthesia in a patient with total Kartagener's syndrome.

A 41-year-old woman with complete Kartagener's syndrome developed cholecystitis in a left-sided gall bladder. Bilateral diffuse bronchiectasis ruled her unfit for general anesthesia; chronic cough, copious expectoration and dyspnea prevented her from lying down supine for more than a few minutes. Successful cholecystectomy was performed in a semi-reclined position using thoracic epidural anesthesia, the anatomy being the mirror image of that of a gall bladder in normal position. The gall bladder was full of stones and operative cholangiogram revealed a normal but transposed biliary system.

Syndrome of primary ciliary dyskinesia: Kartagener's syndrome with empyema thoracis and azoospermia.

Primary ciliary dyskinesia is a genetically determined disorder with several pulmonary complications. A case of an 18-year-old male suffering from this entity and having empyema thoracis and azoospermia is presented here.

Caso clínico: disquinesia ciliar primaria con situs inversus (síndrome de Kartagener) / Clinic case: ciliar primary dyskinesia with situs inversus kartagener syndrome

Presentamos un caso de Síndrome de Kartagener en un individuo de sexo masculino, 41 años, soltero, trabajador rural, con una historia de más de 20 años de procesos rinosinusales y bronquiales de etiología infecciosa, secreciones nasales purulentas permanentes y espectoración de iguales características. Disnea de esfuerzo en progresión y episodios de exacerberación de la disnea con ruidos endobronquiales configurando una verdadera hiperreactividad bronquial. Los estudios revelaron bronquiectasias masivas en ambos pulmones, insuficiencia ventilatoria mixta, sinusitis, situs inversus total, disquinesia ciliar (test de sacarina) e inmovilidad espermática

Síndrome de Kartagener / Kartagener's syndrome

A Síndrome de Kartagener é determinada pela tríade de situs inversus bronquiectasia e sinusite. Seu substrato anatomo-funcional é uma alteraçäo na ultra-estrutura dos cílio e flagelos, que se tornam discinéticos. Como resultados, todos os epitélios ciliados, bem como os espermatozóides têm sua funçäo prejudicada. Faz-se uma revisäo sobre a Síndrome de Kartagener, com ênfase especial nos aspectos de etiopatogenia e apresentaçäo clínica em conjunto ao relato de um caso

Síndrome de Kartagener associada ao angiofibroma nasal: relato de um caso / Kartagener's syndrome with nasal angiofibroma: report of a case

Os autores apresentam um caso de paciente do sexo masculino, portador da síndrome de Kartagener, no qual verificaram a existência de pequeno angiofibroma nasal, envolto em massa polipóide

Kartagener syndrome with azoospermia

Kartagener syndrome is characterized by bronchiectasis, Sinusitis and dextrocardia, leading to repeated respiratory infections and infertility. Infertility in Kartagener syndrome is caused by immotile cilia and not the absence of sperms. A case of kartagener syndrome is presented, where the disease was accompanied by Azoospermia

Microscopia electrónica de cilios de un caso con síndrome de motilidad ciliar deficiente, asociado con síndrome de Kartagener / Electron microscopy of cilia of a case with deficiency ciliary motility syndrome associated with Kartagener syndrome

Se presenta el caso de un paciente masculino de 16 años de edad que ingresó al Hospital "20 de Noviembre", por padecer coartación de la aorta y síndrome de Kartagener con sinusitis crónica y bronquiectasia. En el estudio al microscopio electrónico, se observaron en los cilios y flagelos, alteraciones diversas como presencia en el axonema de microtúbulos aislados en la periferia en lugar de dobletes. A esta alteración actualmente se le denomina síndrome de motilidad ciliar deficiente, ya que el síndrome de Kartagener puede presentar cilios móviles. El paciente fue operado de la coartación de la aorta con evolución satisfactoria. Este caso con síndrome de motilidad ciliar deficiente, asociado con síndrome de Kartagener, presentó correlación de las manifestaciones clínicas, de laboratorio y radiológicas con los hallazgos ultrastructurales; por lo anterior es indispensable ante la sospecha de situs inversus, hacer el diagnóstico temprano, evitando así el desarrollo de bronquiectasias y destrucción pulmonar