RESUMO
Primary ciliary dyskinesia (PCD) is a rare genetic disease that produces functional and structural de fects in the cilia. In Peru, no cases of this disease have been reported in the pediatric population. OBJECTIVE: To describe the clinical, radiological and ciliary ultrastructure characteristics in children with PCD, in a country with medium economic resources. CLINICAL CASE: We report 5 patients with PCD treated at the Instituto Nacional de Salud del Niño-Breña (Peru). Age range 1 to 5 years (median 3 years). Three patients were male. The most frequent clinical manifestations were chronic wet cough, rhonchi, coarse crackles, recurrent bronchial obstructive syndrome, and recurrent pneumonia. All patients had atelectasis, three had bronchiectasis, and two had dextrocardia with situs inversus. Two patients had undergone lobectomy. Other causes of recurrent pneumonias were ruled out with im munodeficiency study, chlorine test and pulmonary aspiration The electron microscopy showed ab sence of the inner arm of dynein as the most frequent pattern. All patients received treatment with antibiotics, nebulization with hypertonic saline, and respiratory physiotherapy with good adherence. CONCLUSION: In medium incomes countries, electron microscopy associated with clinical and radio logical characteristics plays an important role in the early diagnosis of this disease. This is the first Peruvian report that contributes to the casuistry and epidemiology of this rare pathology.
Assuntos
Síndrome de Kartagener , Humanos , Criança , Masculino , Lactente , Pré-Escolar , Feminino , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Síndrome de Kartagener/genética , Microscopia Eletrônica , Cílios/ultraestrutura , Brônquios , Diagnóstico PrecoceRESUMO
Pulmonary surfactant dysfunction disorders are caused by genetic defects that alter pulmonary surfactant metabolism. They are rare disorders and cause significant morbidity and mortality in the neonatal and pediatric populations. OBJECTIVE: To describe the clinical, histopathological, and ultrastructural findings of the lamellar body that suggest surfactant protein C (SP-C) dysfunction, where confirmatory genetic studies are not available. CLINICAL CASE: We report three pediatric cases of pul monary surfactant dysfunction disorders from a pediatric hospital in Peru. Video-assisted lung biop sy was performed in all cases. Ultrastructural studies of the lamellar body were compatible with type- C pulmonary surfactant dysfunction. The treatment used was methylprednisolone pulses monthly for six months, then every two months, varying the duration according to the clinical evolution. They also received daily hydroxychloroquine and azithromycin three times a week. Clinical evaluations, eye fundus, echocardiogram, electrocardiogram, and biochemistry were performed periodically. At follow-up, there was a good response to treatment and no adverse effects were observed. One case died despite the therapies received. CONCLUSIONS: In 3 patients with type-C surfactant dysfunction, treatment with corticosteroids, hydroxychloroquine, and azithromycin was successful in 2 of them. This is one of the first case series reported in Peru that contributes to the study of these diseases, es pecially in low- and medium-income countries.
Assuntos
Hidroxicloroquina , Proteína C , Criança , Humanos , Azitromicina , Hidroxicloroquina/uso terapêutico , Proteína C/genética , Proteína C Associada a Surfactante Pulmonar/genética , TensoativosRESUMO
INTRODUCTION: Actinomycosis is a rare infectious disease caused by Gram-positive bacteria. The most common species is Actinomyces israelii. Among its forms of presentation, the thoracic is the least frequent. CASE PRESENTATION: We report two patients with thoracic actinomycosis, 8 and 13 years old, from different geographical areas of Peru. The first case had empyema necessitans and the second, lung consolidation and recurrent hemoptysis. Both had a certain degree of difficulty in their diagnosis but responded favorably to antibiotics and surgical treatment. The diagnosis was based on the histopathological study. However, we were not able to ascertain the species of actinomyces. CONCLUSION: Thoracic actinomycosis is rare in children and presents as a parenchymal lesion with possible fistulization to the chest wall. This article is one of the few in the Peruvian literature, constituting a contribution to the knowledge of the disease and its management in pediatrics.
INTRODUCCIÓN: La actinomicosis es una enfermedad infecciosa poco frecuente, ocasionada por una bacteria Gram positiva. La especie más común es Actinomyces israelii. Dentro de sus formas de presentación, la torácica es la menos frecuente. PRESENTACIÓN DE CASOS: Reportamos dos pacientes con actinomicosis torácica de 8 y 13 años de diferentes zonas geográficas de Perú. El primer caso tuvo empiema necessitatis y el segundo, consolidación pulmonar y hemoptisis recurrente. Ambos tuvieron cierto grado de dificultad en su diagnóstico, pero con una buena respuesta al tratamiento antibiótico y quirúrgico. El diagnóstico fue mediante estudio histopatológico. Sin embargo, no se pudo identificar la especie de Actinomyces. CONCLUSIÓN: La actinomicosis torácica es poco frecuente en niños y se presenta como una lesión parenquimal con posible fistulización a la pared torácica. Este es uno de los pocos casos reportados en la literatura peruana, constituyendo una contribución al conocimiento de esta enfermedad y su manejo en pediatría.
Assuntos
Actinomyces/isolamento & purificação , Actinomicose/diagnóstico , Pneumopatias/diagnóstico , Actinomicose/microbiologia , Actinomicose/terapia , Adolescente , Antibacterianos/administração & dosagem , Criança , Feminino , Humanos , Pneumopatias/microbiologia , Pneumopatias/terapia , Masculino , PeruRESUMO
INTRODUCCIÓN: La actinomicosis es una enfermedad infecciosa poco frecuente, ocasionada por una bacteria Gram positiva. La especie más común es Actinomyces israelii. Dentro de sus formas de presentación, la torácica es la menos frecuente. PRESENTACIÓN DE CASOS: Reportamos dos pacientes con actinomicosis torácica de 8 y 13 años de diferentes zonas geográficas de Perú. El primer caso tuvo empiema necessitatis y el segundo, consolidación pulmonar y hemoptisis recurrente. Ambos tuvieron cierto grado de dificultad en su diagnóstico, pero con una buena respuesta al tratamiento antibiótico y quirúrgico. El diagnóstico fue mediante estudio histopatológico. Sin embargo, no se pudo identificar la especie de Actinomyces. CONCLUSIÓN: La actinomicosis torácica es poco frecuente en niños y se presenta como una lesión parenquimal con posible fistulización a la pared torácica. Este es uno de los pocos casos reportados en la literatura peruana, constituyendo una contribución al conocimiento de esta enfermedad y su manejo en pediatría.
INTRODUCTION: Actinomycosis is a rare infectious disease caused by Gram-positive bacteria. The most common species is Actinomyces israelii. Among its forms of presentation, the thoracic is the least frequent. CASE PRESENTATION: We report two patients with thoracic actinomycosis, 8 and 13 years old, from different geographical areas of Peru. The first case had empyema necessitans and the second, lung consolidation and recurrent hemoptysis. Both had a certain degree of difficulty in their diagnosis but responded favorably to antibiotics and surgical treatment. The diagnosis was based on the histopathological study. However, we were not able to ascertain the species of actinomyces. CONCLUSION: Thoracic actinomycosis is rare in children and presents as a parenchymal lesion with possible fistulization to the chest wall. This article is one of the few in the Peruvian literature, constituting a contribution to the knowledge of the disease and its management in pediatrics.
