Primary Ciliary Dyskinesia Report

Primary Ciliary DyskinesiaPrimary ciliary dyskinesia (PCD) is a rare condition characterised by chronic respiratory tract infections, abnormal positioning of internal organs and infertility. The clinical picture is determined by abnormalities in cilia and flagella, which are located in the lining of the airways, the reproductive system and other organs and tissues. Primary ciliary dyskinesia is caused by mutations in several genes; mutations in the DNAI1 and DNAH5 genes account for approximately 30 per cent of all cases. 50 genes analyzed It is recommended if: This test may be indicated for those with a family history of Primary Ciliary Dyskinesia. Patients with congestion, situs inversus and frequent sinus and ear infections may also benefit. Genetic testing can help in diagnosis and in providing information on risks for other family members. List of main conditions: Ciliary dyskinesia, primary, 1, with or without situs inversus Ciliary dyskinesia, primary, 2 Ciliary dyskinesia, pri