Primary ciliary dyskinesia in children. Role of electron microscopy in countries with medium economic resources

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease that produces functional and structural defects 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 immunodeficiency study, chlorine test and pulmonary aspiration The electron microscopy showed absence 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 radiological 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.