Relato de caso: discinesia ciliar primária associada à síndrome de Kartagener

Abstract

INTRODUCTION: Primary ciliary dyskinesia is a ciliary mobility disorder, which is characterized by reduced or uncoordinated mobility of the cilia present in the respiratory epithelium. Consequently, mucociliary transport is impaired in the patient’s respiratory tract, making him susceptible to infections and stasis of recurrent secretions, and later to a hyperplasia of secretory cells. CASE REPORT: This article describes the case of a patient with primary ciliary dyskinesia associated with Kartagener syndrome. All the significant points that led to its early diagnosis (less than 3 years of age) will be highlighted, including clinical status, imaging tests, and genetic study. DISCUSSION: It is an autosomal recessive disease, and in half of the cases it is associated with Kartagener syndrome, which manifests classic signs of chronic sinusitis, situs inversus and bronchiectasis. Furthermore, it is also common to find persistent cough, dyspnea, otitis media, mouth breathing, nasal polyp, and even cardiac malformations in patients with the disease. The differential diagnosis for ciliary dyskinesia is important in order to investigate possible additional damage to the patient due to his clinical condition. Therefore, clinical investigation in conjunction with radiographs, CT scans and cytological exams are the main method for analyzing structural variations. Overall, this dysfunction is usually identified in late stages, so its study is necessary enough to help the early diagnosis of the pathology, contributing to the preservation of the pulmonary function of these patients.