Primary Ciliary Dyskinesia Registry

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease that is estimated to occur in about ۱ in ۱۵,۰۰۰ people. A patient registry is a well-known tool for collecting a sufficient number of patients with a rare disease to evaluate and monitor the patient’s information in a standard and continuous way, as well as to conduct clinical research on the disease, which can be used for early diagnosis. Standard treatment and follow-up of PCD patients will help us. In this study, we developed a PCD registry for the Iranian population.  Materials and Methods: In this study, for the first time in Iran, the PCD Registry was presented to record demographic information, clinical diagnostic symptoms, diagnosis method, management, and follow-up of patients called IPOLD (Iranian Pediatric Orphan Lung Disease). This PCD Registry can be used in all provinces of Iran, and a network of PCD treatment centers can be established. Two hundred fifty-six patients diagnosed with PCD, regarding demographic information, diagnostic clinical symptoms, disease diagnosis method, imaging, spirometry, and microbiological findings, were referred to university hospitals and clinics covered by the Tehran University of Medical Sciences from April ۱۴۰۱ to April ۱۴۰۲. We used SPSS to analyze data and performed descriptive tests.  Results: In this study, the average age of disease diagnosis was ۵.۷ years. The most common diagnostic symptom of the patients was chronic cough, with the belief of ۹۴.۳%. ۵۶.۷% of patients with distress were hospitalized and hospitalized in infancy. Bronchiectasis was seen in CXR or Chest CT in ۲۸ patients (۱۱%), and the severity of bronchiectasis was evaluated using the Bronchiectasis Severity Index (BSI); ۱۳ cases have mild bronchiectasis (۴۶%) and ۱۵ moderate cases (۵۳%). Atelectasis was seen in ۴۷% of patients, with the predominance of RML involvement in ۳۵%. Lung infiltration was reported in ۱۵% of patients. PCD diagnosis method in ۴۶ patients was based on PICADAR clinical diagnosis, ۱۷۳ patients by nasal nitric oxide test, ۳۱ by genetic test, and six by TEM.  Conclusion: The patients’ information was registered in the registration system, IPOLD, Iran, for children's orphan lung disease.

Keywords:

Children , Primary ciliary dyskinesia , Registry