Abstract Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with impairment of mucociliary transport and, consequently, with a high incidence of chronic rhinosinusitis. For patients with chronic rhinosinusitis who remain symptomatic despite medical treatment, endoscopic sinus surgery is a safe and effective therapeutic option. However, to date, no studies have been found evaluating the effect of surgery on the quality of life associated with the effect on olfaction and nasal endoscopy findings of patients with primary ciliary dyskinesia and chronic rhinosinusitis. Objective To describe the effect of endoscopic sinus surgery on the quality of life, on olfaction, and on nasal endoscopy findings of adults with PCD and chronic rhinosinusitis. Methods Four patients who underwent endoscopic sinus surgery were included. The Sinonasal Outcome Test-22 (SNOT-22) score, the Nasal Obstruction Symptom Evaluation (NOSE) questionnaire, and the Lund-Kennedy score were collected preoperatively and at 3 and 6 months postoperatively. The olfaction as assessed with the University of Pennsylvania Smell Identification Test (UPSIT), which was administered preoperatively and 3 months postoperatively. Results A total of 4 patients with a mean age of 39.3 years old (3 men and 1 woman) completed the study. All patients showed clinically significant improvement in the SNOT-22, NOSE, and Lund-Kennedy scores at 3 months postoperatively, and this improvement was sustained throughout the follow-up period. However, olfaction did not improve after surgery. Conclusion The endoscopic sinus surgery treatment of chronic rhinosinusitis in adults with PCD was associated with improvement in quality of life and endoscopic findings. However, no improvement in olfaction was demonstrated. Studies with a larger number of patients and control groups should help confirm these findings.

RESUMO A discinesia ciliar primária (DCP) é uma doença genética de origem comumente autossômica recessiva. Caracteriza-se clinicamente por infecções respiratórias de repetição; porém, a repercussão na qualidade de vida desses pacientes deve ser levada em consideração. Estudos têm demonstrado um importante impacto da doença nesse quesito, mas ainda faltam marcadores de qualidade de vida específicos para DCP. Nesse sentido, foi desenvolvido o questionário de qualidade de vida em pacientes com DCP. O presente comunicado versa sobre o processo de tradução do questionário desenvolvido no Reino Unido para o português falado no Brasil através de uma parceria entre pesquisadores do Brasil e Reino Unido e sua posterior aplicação a pacientes brasileiros.

ABSTRACT Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked. Studies have shown that PCD has a significant impact on the lives of patients, although there are as yet no PCD-specific markers of quality of life. To address that problem, researchers in the United Kingdom developed a quality-of-life questionnaire for patients with PCD. The present communication focuses on the process of translating that questionnaire into Brazilian Portuguese, through a partnership between researchers in Brazil and those in the United Kingdom, as well as its subsequent application in patients in Brazil.

Discinesia ciliar primária (DCP) é uma doença genética que compromete a estrutura e/ou a função ciliar, causando retenção de muco e bactérias no trato respiratório e levando a infecções crônicas nas vias aéreas superiores e inferiores, defeitos de lateralidade visceral e problemas de fertilidade. Revisamos os sinais e sintomas respiratórios da DCP, os testes de triagem e a investigação diagnóstica, bem como detalhes relacionados ao estudo da função, ultraestrutura e genética ciliar. Descrevemos também as dificuldades em diagnosticar a DCP por meio de microscopia eletrônica de transmissão, bem como o seguimento dos pacientes.

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.