RESUMO
Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the RSPH4A (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the island. The nNO level differentiated homozygous subjects with PCD due to the RSPH4A (c.921+3_921+6del (intronic)) founder mutation compared to healthy gender-age matched controls and subjects with VUS or negative genetic testing for PCD. The acquisition of state-of-the-art diagnostic tools such as nNO positively impacted and expanded our current PCD diagnostic capabilities in Puerto Rico for our founder genetic mutation. The addition of nNO technology promotes earlier disease screening and recognition for patients with PCD on the island. The access to nNO helped us to properly characterize the PCD diagnosis for patients with the RSPH4A (c.921+3_921+6del (intronic)). As a result, our findings will allow us to be part of the national PCD foundation registry and represent Puerto Rican Hispanics in future PCD multicentric clinical trials.
Assuntos
Transtornos da Motilidade Ciliar , Óxido Nítrico , Humanos , Óxido Nítrico/análise , Porto Rico , Nariz/química , Mutação , Transtornos da Motilidade Ciliar/diagnósticoRESUMO
Introducción. Sobre la base de un caso clínico, se presenta la descripción del cuadro intersticial por disquinesia ciliar primaria de una paciente, desde los dos meses de edad (conforme el relato de la familia) hasta los 16 años, cumplidos en el año 2021. Método. Se realizó una evaluación clínica con extensos estudios para descartar otras patologías similares. El diagnóstico definitivo fue determinado por el estudio genético para disquinesia ciliar primaria (DQCP) y otros defectos genéticos informados por el laboratorio Ambrygen, Estados Unidos. Objetivos. Describir detalladamente la evolución de la paciente durante quince años, con énfasis en los estudios mencionados. Presentar la evolución desde el nacimiento hasta el año 2021 de una recién nacida con distress respiratorio (asistencia respiratoria mecánica durante diez días), con neumonía a los pocos días de nacer y con otitis, sinusitis y neumonías recurrentes, que llega a la fecha con una calidad de vida óptima, sin sinusitis, otitis ni neumonías y con espirometría normal. Su capacidad física para realizar cualquier actividad deportiva de esfuerzo importante señala la extraordinaria respuesta a los tratamientos. Presentar los hallazgos de genética, microscopía electrónica y estudios de barrido ciliar. Resultados. Confirmado su diagnóstico de DQCP, presentamos su seguimiento actualizado hasta el año 2021. La DQCP debe ser sospechada en recién nacidos y lactantes ante la persistencia de neumonías, otitis, sinusitis y bronquitis recurrentes. (AU)
Introduction. On the basis of a clinical case, a description of the interstitial picture due to primary ciliary dyskinesia of a patient from two months of age (according to the family's report) to 15 years of age, completed in the year 2021 is presented. Methodology. Clinical evaluation based on multiple studies to rule out another similar pathology. Final diagnosis was established through genetic studies for primary ciliary diskinesia (PCDK). (Ambrygen-USA). Objective. To describe clinical, laboratory and spirometric evolution of this patient during fifteen years. Also to bedescribe evolution since birth up to the year 2021. The patient was born with respiratory distress (needed mechanical ventilation for ten days), with pneumonia a few days after delivery, and with sinusitis and recurrent pneumonia. Finally, she has now a high quality of life. No sinusitis, otitis or pneumonia and normal spirometry. She´s able to perform heavy physical efforts. We present the genetic and electron microscopy (video) studies to observe ciliary beating. Results. After confirming your DQCP diagnosis, we present your updated follow-up until 2021. DQCP should be suspected in newborns and infants in the presence of recurrent pneumonia, otitis sinusitis and bronchitis. (AU)
Assuntos
Humanos , Feminino , Adolescente , Transtornos da Motilidade Ciliar/genética , Doenças Pulmonares Intersticiais , Seguimentos , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/terapia , Diagnóstico DiferencialRESUMO
OBJECTIVE: To evaluate whether cystic fibrosis transmembrane conductance regulator (CFTR) variants are more common among individuals tested for primary ciliary dyskinesia (PCD) compared with controls. STUDY DESIGN: Data were studied from 1021 individuals with commercial genetic testing for suspected PCD and 91â777 controls with genetic testing at the same company (Invitae) for symptoms/diseases unrelated to PCD or CFTR testing. The prevalence of CFTR variants was compared between controls and each of 3 groups of individuals tested for PCD (PCD-positive, -uncertain, and -negative molecular diagnosis). RESULTS: The prevalence of 1 pathogenic CFTR variant was similar among the individual groups. When combining the PCD-uncertain and PCR-negative molecular diagnosis groups, there was a higher prevalence of single pathogenic CFTR variants compared with controls (P = .03). Importantly, >1% of individuals who had negative genetic testing results for PCD had 2 pathogenic CFTR variants (8 of 723), and the incidence of cystic fibrosis (CF) (2 pathogenic variants) is roughly 1 in 3000 individuals of Caucasian ethnicity (â¼0.03%). This incidence was also greater than that of 2 pathogenic CFTR variants in the control population (0.09% [84 of 91â777]; P = 9.60 × 10-16). These variants correlate with mild CFTR-related disease. CONCLUSIONS: Our results suggest that a single pathogenic CFTR variant is not likely to be a PCD-mimetic, but ongoing studies are needed in individuals in whom PCD is suspected and genetic testing results are uncertain or negative. Furthermore, CF may be misdiagnosed as PCD, reflecting phenotypic overlap. Among individuals evaluated for PCD, CF should be considered in the differential even in the CF newborn screening era.
Assuntos
Transtornos da Motilidade Ciliar/etiologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/complicações , Mutação , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Análise Mutacional de DNA , Feminino , Seguimentos , Testes Genéticos/métodos , Humanos , Recém-Nascido , Masculino , Prevalência , Estudos RetrospectivosRESUMO
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.
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.
Assuntos
Síndrome de Kartagener/diagnóstico , Transtornos da Motilidade Ciliar/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Síndrome de Kartagener/genética , Síndrome de Kartagener/fisiopatologiaRESUMO
BACKGROUND: Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The mortality rate is 100% and in view of the high index of recurrence, subsequent pregnancies should be investigated appropriately with genetic counseling. CLINIC CASE: We present the case of a 15 years-old mother with 30.2 weeks pregnancy resulting from rape by consanguinity (grandfather), without prenatal care. On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pellucidum or herniated sac cerebellum and occipital level (encephalocele) are evident. It starts cervical ripening with prostaglandins for 24 hours to conduct further labor with oxytocic and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy family is authorized; however, it not has done because it is legal and only medical geneticist obtains medical case assessment. CONCLUSIONS: The Meckel-Gruber syndrome is a very rare condition that occurs in cases of consanguinity occasions. Mortality occurs in 100% of cases, so you should talk to parents and explain the best maternal prognosis, with abortion in the early stages and subsequent genetic counseling.
Assuntos
Transtornos da Motilidade Ciliar/diagnóstico , Encefalocele/diagnóstico , Doenças Fetais/diagnóstico por imagem , Doenças Renais Policísticas/diagnóstico , Ultrassonografia Pré-Natal/métodos , Aborto Induzido/métodos , Adolescente , Transtornos da Motilidade Ciliar/fisiopatologia , Encefalocele/fisiopatologia , Feminino , Aconselhamento Genético/métodos , Idade Gestacional , Humanos , Doenças Renais Policísticas/fisiopatologia , Gravidez , Retinose PigmentarRESUMO
OBJECTIVES: Nasal nitric oxide (nNO) is a reliable non-invasive screening test for primary ciliary dyskinesia (PCD), but the recommended technique, exhalation against resistance (ER), requires cooperation limiting its use in young children. Our objectives were to determine whether easier non-velum closure techniques have the ability to discriminate PCD and longitudinal reproducibility. STUDY DESIGN: We conducted a case-control study evaluating 5 breathing techniques (ER, breath hold, tidal breathing mouth open, tidal breathing mouth closed, and humming) for measuring nNO in patients with PCD compared with control subjects (cystic fibrosis [CF], non-PCD non-CF bronchiectasis, and healthy). A subgroup repeated measurements 1 month later. Sensitivity, specificity, and intraclass correlation coefficient of each nNO technique were determined. RESULTS: We tested 85 children (20 PCD, 32 CF, 14 broncheoctasis, and 19 healthy), aged 5 to 18 years (mean age, 11.5 years); 52% of children were male. All breathing techniques discriminated patients with PCD from control subjects with high specificity (>90%), 100% sensitivity, and intraclass correlation coefficient >0.8. nNO output cutoff values for diagnosing PCD varied with techniques (ER, 59 nL/min; breath hold, 61 nL/min; tidal breathing mouth open, 37 nL/min; tidal breathing mouth closed, 30 nL/min; humming, 41 nL/min). CONCLUSION: Non-velum closure techniques are reproducible and valid to discriminate PCD; however, they generally yield lower values than ER.
Assuntos
Testes Respiratórios/métodos , Transtornos da Motilidade Ciliar/diagnóstico , Óxido Nítrico/metabolismo , Adolescente , Bronquiectasia/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Fibrose Cística/metabolismo , Feminino , Humanos , Estudos Longitudinais , Masculino , Sensibilidade e EspecificidadeRESUMO
La disquinesia ciliar primaria (DCP) corresponde a una enfermedad genética heterogénea, que se produce por una alteración estructural o funcional de los cilios. Es de difícil diagnóstico tanto por su variada sintomatología como por la existencia de métodos de screening y diagnóstico complejos. El método que hasta ahora ha sido considerado como gold standard es el análisis de la estructura ciliar por medio de la microscopía electrónica de transmisión (MET). Esta técnica tiene limitaciones porque permite analizar un número limitado de axonemas ciliares y puede excluir del diagnóstico a pacientes con axonema normal pero con alteración funcional y clínica clásicas. En los últimos años se han desarrollado métodos diagnósticos sobre la base de un mejor conocimiento de la estructura proteica de los cilios, de los genes que codifican estas proteínas y de las mutaciones asociadas a DCP. Estos nuevos métodos consisten en un análisis genético y un estudio de la expresión de proteínas ciliares en los pacientes afectados. Esta publicación tiene como objetivo realizar una revisión de la fisiopatología de la DCP, los métodos diagnósticos actuales y resumir el desarrollo del diagnóstico genético en la literatura internacional y su posible aplicación en nuestro medio.
Primary cilliary dyskinesia (PCD) is an heterogeneous genetic disease caused by a structural and/or functional alteration of the ciliary skeleton. It is a diagnostic challenge due to its protean clinical presentation and to the complexity of screening and diagnostic methods. The method hitherto regarded as the gold standard is the analysis of ciliary structure by transmission electron microscopy (TEM). This presents limitations because analyzes a limited number of ciliary axonemes, and may exclude cases with typical functional and clinical presentation. In recent years new diagnostic methods have been developed based on novel knowledge of the structural ciliary proteins, the genes encoding these proteins and mutations associated to DCP. These new methods include genetic analysis and the study of protein expression in cilia of the affected patients. This paper reviews DCP pathophysiology, the current diagnostic methods applied, and summarizes the international literature regarding the diagnosis of DCP based on genetic screening.
Assuntos
Humanos , Dineínas/genética , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/genética , Mutação , Testes Genéticos , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/fisiopatologia , Transtornos da Motilidade Ciliar/genéticaRESUMO
OBJECTIVES: To describe 3 children with mutations in a Meckel syndrome gene (MKS3), with features of autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis, and Joubert syndrome (JS). STUDY DESIGN: Biochemical evaluations, magnetic resonance and ultrasound imaging, electroretinograms, IQ testing, and sequence analysis of the PKHD1 and MKS3 genes were performed. Functional consequences of the MKS3 mutations were evaluated by cDNA sequencing and transfection studies with constructs of meckelin, the protein product of MKS3. RESULTS: These 3 children with MKS3 mutations had features typical of ARPKD, that is, enlarged, diffusely microcystic kidneys and early-onset severe hypertension. They also exhibited early-onset chronic anemia, a feature of nephronophthisis, and speech and oculomotor apraxia, suggestive of JS. Magnetic resonance imaging of the brain, originally interpreted as normal, revealed midbrain and cerebellar abnormalities in the spectrum of the "molar tooth sign" that characterizes JS. CONCLUSIONS: These findings expand the phenotypes associated with MKS3 mutations. MKS3-related ciliopathies should be considered in patients with an ARPKD-like phenotype, especially in the presence of speech and oculomotor apraxia. In such patients, careful expert evaluation of the brain images can be beneficial because the brain malformations can be subtle.
Assuntos
Anormalidades Múltiplas/genética , Transtornos da Motilidade Ciliar/genética , Proteínas de Membrana/genética , Mutação , Rim Policístico Autossômico Recessivo/genética , Anormalidades Múltiplas/diagnóstico , Encéfalo/anormalidades , Encéfalo/patologia , Criança , Transtornos da Motilidade Ciliar/diagnóstico , Feminino , Humanos , Rim/anormalidades , Rim/diagnóstico por imagem , Rim/patologia , Fígado/anormalidades , Fígado/patologia , Imageamento por Ressonância Magnética , Masculino , Rim Policístico Autossômico Recessivo/diagnóstico , Irmãos , Síndrome , UltrassonografiaRESUMO
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% 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.
Assuntos
Síndrome de Kartagener/diagnóstico , Adulto , Broncografia , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/terapia , Feminino , Humanos , Síndrome de Kartagener/terapia , Masculino , Situs Inversus/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
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.
Assuntos
Adulto , Feminino , Humanos , Masculino , Síndrome de Kartagener/diagnóstico , Broncografia , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/terapia , Síndrome de Kartagener/terapia , Situs Inversus , Tomografia Computadorizada por Raios XRESUMO
Se presenta el caso de un varón de 13 años, portador de una disquinesia ciliar primaria confirmada por biopsia. Se detalla su historia clínica, el estudio multidisciplinario realizado, así como la forma en que se llegó al diagnóstico. Junto al caso clínico, se realiza una revisión del cuadro de la disquinesia ciliar primaria, considerando sus principales aspectos clínicos y etiopatogénicos, así como los elementos diagnósticos fundamentales.
Assuntos
Humanos , Masculino , Adolescente , Cílios/patologia , Transtornos da Motilidade Ciliar/congênito , Transtornos da Motilidade Ciliar/diagnóstico , Rinorreia de Líquido Cefalorraquidiano , Sinusite/complicaçõesRESUMO
La disquinesia ciliar primaria es una enfermedad congénita que aúna un grupo heterogéneo de condiciones patológicas que se caracterizan por la presencia de alteraciones microanatómicas o funcionales, o ambas, en las cilias y los flagelos espermáticos. Las manifestaciones clínicas de este desorden son variadas y se caracterizan por la aparición temprana de infección recurrente de las vías auditivo-respiratorias. Además de los determinantes genéticos, la propia infección e inflamación recurrente -así como algunos agentes ambientales- pueden provocar alteraciones ciliares. Estas alteraciones son, sin embargo, de tipo inespecífico y conducen a la llamada disquinesia ciliar secundaria. En el presente trabajo se describen los resultados obtenidos del estudio de 40 biopsias de mucosa nasal y bronquial provenientes de 33 pacientes sospechosos de portar alguna de estas formas de disquinesia ciliar, las cuales fueron remitidas por los médicos tratantes al Laboratorio de Biología Celular del Instituto de Investigaciones Biológicas Clemente Estable para su estudio por microscopía electrónica de transmisión. En su conjunto estos estudios mostraron que 9 de los pacientes (27 por ciento) presentaban alteraciones ultra estructurales ciliares compatibles con el diagnóstico de disquinesia ciliar primaria. Tres de ellos tenían situs inversus totalis. El 52 por ciento de los pacientes presentó alteraciones ciliares secundarias. A pesar de sus manifestaciones clínicas, 21 por ciento de los pacientes restantes mostró una ultraestructura ciliar normal. En su conjunto, los resultados obtenidos en la población estudiada apuntan a confirmar la alta frecuencia con que se presentan las alteraciones ciliares en los pacientes respiratorios crónicos. Teniendo en cuenta que el diagnóstico precoz de esta enfermedad es esencial para prevenir el desarrollo de lesiones respiratorias irreversibles, se destaca la importancia de indicar el examen ultraestructural de las cilias en los pacientes portadores de situs inversus y sus hermanos, así como en los individuos afectados de enfermedad respiratoria crónica severa de inicio precoz y carentes de diagnóstico etiológico. (AU)
Assuntos
Transtornos da Motilidade Ciliar/diagnóstico , Microscopia Eletrônica , Síndrome de Kartagener/diagnósticoRESUMO
Discinesia ciliar primária (DCP) é uma doença genética autossômica recessiva, caracterizada por defeito da motilidade de estruturas ciliadas. A propulsäo do espermatozóide e o clearance do muco estäo prejudicados. As manifestaçöes clínicas de interesse para o otorrinolaringologista säo: sinisite, otomastoidite, problemas na fala e olfato. O diagnóstico é feito por uma cascata de investigaçöes, iniciando com o teste de sacarina, frequência do batimento ciliar e microscopia eletrônica para verificar a morfologia e a orientaçäo ciliar. É importante que o diagnóstico seja precoce para previnir o desenvolvimento de bronquiectasia e para evitar qualquer procedimento otorrinolaringológico desnecessário. O tratamento da DCP é essencialmente sintomático. Os pilares säo a antibioticoterapia e a fisioterapia torácica. O seguimento contínuo é essencial, e o acompanhamento deve ser multidisciplinar, com o apoio de centros com interesse em DCP. O prognóstico é bom, mas a morbidade é considerável se a DCP for manuseada incorretamente.
Assuntos
Humanos , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/fisiopatologia , Transtornos da Motilidade Ciliar/terapia , Cílios/fisiologia , Cílios/ultraestrutura , Síndrome de Kartagener , SacarinaRESUMO
El síndrome del cilio inmóvil o disquinesia ciliar congénita es un cuadro clínico infrecuente que se caracteriza por broncorrea e infecciones respiratorias recurrentes desde la infancia y esterilidad masculina por astenospermia(espermios inmóviles).Cuando a lo anterior se asocia dextricardia se configura el síndrome de Kartagener. El diagnóstico diferencial se plantea con otras causas de broncorrea(Bronquiecrasias, abscesos pulmonares y mucoviscidosis)
Assuntos
Humanos , Masculino , Adulto , Transtornos da Motilidade Ciliar/diagnóstico , Síndrome de Kartagener , Bronquiectasia/complicações , Diagnóstico Diferencial , Infecções Respiratórias/complicaçõesRESUMO
INTRODUCTION: Young's syndrome is part of primary ciliary dyskinesia, characterized by repeated airway infections and congenital epididymis obstruction. CASE REPORT: The authors present the case of a 28-year old male with recurrent rhinosinusitis and pneumonia. Sweat and immunologic tests fell within the normal range. Sperm analyses revealed absence of spermatozoa although spermatogenesis was normal according to the findings in testis biopsy. DISCUSSION: The final diagnosis was Young's syndrome the first case of the disease reported in Brazilian literature. CONCLUSIONS: The authors emphasize the need for appropriate diagnosis and genetic counselling as well as differential diagnosis with cystic fibrosis in these cases.
Assuntos
Epididimo , Oligospermia/complicações , Rinite/complicações , Sinusite/complicações , Doenças Testiculares/complicações , Adulto , Transtornos da Motilidade Ciliar/diagnóstico , Humanos , Pneumopatias/complicações , Masculino , Recidiva , Síndrome , Doenças Testiculares/congênitoRESUMO
OBJECTIVE: To evaluate the effects of a heat and moisture exchanger and a heated humidifier on respiratory mucus and transportability by cilia and cough in patients undergoing invasive mechanical ventilation (up to 72 hrs). DESIGN: Prospective, randomized, clinical study. SETTING: General intensive care unit and university research laboratory. PATIENTS: A total of 32 consecutive patients with acute respiratory failure, who were intubated and mechanically ventilated in the intensive care unit setting, were enrolled in the study. INTERVENTIONS: Patients were randomly assigned to receive as a humidifying system a heat and moisture exchanger (HME) or heated humidified water (HHW) at the onset of mechanical ventilation (time 0). Respiratory mucus samples were collected by suction using a sterile technique at time 0, 24, 48, and 72 hrs of mechanical ventilation. MEASUREMENTS AND MAIN RESULTS: Eleven patients were excluded from this study because of either extubation or death before 72 hrs of mechanical ventilation, leaving 12 patients in the HME group and nine patients in the HHW group. Ventilatory variables including minute volume, mean airway pressure, positive end-expiratory pressure, Fio2, as well as Pao2/Fio2 ratio, fluid balance (last 6 hrs), furosemide, and inotrope administration (last 4 hrs) were recorded. In vitro mucus transportability by cilia was evaluated on the mucus-depleted frog palate model, and the results were expressed as the mucus transport rate. Cough clearance (an estimation of the interaction between the flow of air and the mucus lining the bronchial walls) was measured using a simulated cough machine, the results being expressed in millimeters. Mucus wettability was measured by the contact angle between a mucus sample drop and a flat glass surface. Mucus rheologic properties (mechanical impedance [log G*] and the ratio between viscosity and elasticity [tan delta]) were measured using a magnetic microrheometer at 1 and 100 cGy/sec deformation frequency. The two humidification groups were comparable in terms of the Acute Physiology and Chronic Health Evaluation II score, age, gender, ventilatory variables, fluid balance, use of inotropes, and furosemide. CONCLUSION: Ours results indicate that air humidification with either HME or HHW at 32 degrees C (89.6 degrees F) has similar effects on mucus rheologic properties, contact angle, and transportability by cilia in patients undergoing mechanical ventilation, except for transportability by cough, which diminished after 72 hrs of mechanical ventilation in the HME group (p = .0441).
Assuntos
Transtornos da Motilidade Ciliar/etiologia , Tosse/etiologia , Temperatura Alta/uso terapêutico , Umidade/efeitos adversos , Nebulizadores e Vaporizadores , Respiração Artificial/efeitos adversos , Respiração Artificial/métodos , Síndrome do Desconforto Respiratório/fisiopatologia , Síndrome do Desconforto Respiratório/terapia , Mucosa Respiratória/fisiopatologia , APACHE , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/fisiopatologia , Tosse/diagnóstico , Tosse/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Muco/química , Muco/fisiologia , Estudos Prospectivos , Respiração Artificial/instrumentação , Síndrome do Desconforto Respiratório/complicações , Síndrome do Desconforto Respiratório/metabolismo , Reologia , Fatores de Tempo , MolhabilidadeRESUMO
INTRODUÇÃO: A síndrome de Young é uma variante da discinesia ciliar primária, caracterizada pela ocorrência de infecções respiratórias de repetição e obstrução congênita do epidídimo. APRESENTAÇÃO DO CASO: Os autores apresentam um caso de rinossinusite e pneumonias de repetição em um paciente de 28 anos do sexo masculino. Dosagem de sódio e cloro no suor e pesquisa de imunodeficiências celulares e humorais resultaram negativas. O espermograma revelou azoospermia, embora a espermatogênese estivesse mantida, conforme achado na biópsia de testículo. DISCUSSÃO: O diagnóstico foi de síndrome de Young, sendo este o primeiro caso relatado no Brasil. CONCLUSÃO: Os autores alertam para a importância desse diagnóstico, dadas suas implicações para aconselhamento genético, além do diagnóstico diferencial a ser feito com a fibrose cística.
Assuntos
Humanos , Masculino , Adulto , Oligospermia/diagnóstico , Doenças Respiratórias , Doenças Testiculares/diagnóstico , Epididimo , Recidiva , Sinusite/diagnóstico , Doenças Testiculares/congênito , Rinite/diagnóstico , Transtornos da Motilidade Ciliar/diagnóstico , Pneumopatias/diagnóstico , SíndromeRESUMO
Background: Primary ciliary dyskinesia is characterized by a congenital alteration of the ciliary ultrastructure and function. As a consequence, their respiratory tract sweeping action is lost and recurrent respiratory infections ensue. Aim: To analyze a clinical series of patients with primary ciliary dyskinesia, their clinical and laboratory features. Patients and methods: a retrospective review of patients with primary ciliary dyskinesia seen a university hospital, between 1994 and 1998. Bronchial biopsies were obtained with 3.6 mm diameter Olympus fibrobronchoscope, using a cayman type forceps. Ultrastructural alterations of respiratory tract ciliated cells were recorded. Results: six patients (four male) aged 9 months to 13 years old were reviewed. Three patients had situs inversus. All had repeated bouts of obstructive bronchitis and pneumonia, five had sinusitis, four atelectasis, three recurrent otitis and three had bronchiectasis. Cystic fibrosis and immunological alterations were ruled out in five children. Ultrastructural analysis revealed absence of dynein arms in three cases, absence of the internal dynein arm in one, additional peripheral microtubules and absence of dynein arms in one case. Conclusions: primary ciliary dyskinesia must be considered in the differential diagnosis of recurrent respiratory infections. Ultrastructural analysis of ciliary structure can be done in bronchial biopsies obtained through bronchoscopy