El intersticio pulmonar y sus enfermedades en la infancia y adolescencia. Disquinesia ciliar primaria / Pulmonary interstitium illnesses during Infancy and adolescence. Primary ciliary diskinesia

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)

A case of Kartagener’s syndrome: Importance of early diagnosis and treatment.

Kartagener’s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case.

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

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

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

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

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

Discinesia ciliar primária / Primary ciliary diskinesia

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.