One person can make a difference: identification of people with a rare genetic lung disease. Issue 2 (17th April 2023)

• Record Type: Journal Article
• Authors: Horani, Amjad; Brody, Steven L.
• Is Part Of: ERJ open research. Volume 9:Issue 2(2023)
• Publication Date: 2023-04-17
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiration -- Periodicals; Respiration; Respiratory organs -- Diseases; Respiratory organs -- Diseases -- Treatment; Respiratory Tract Diseases; Electronic journals; Fulltext; Internet Resources; Periodicals; Periodical; 616.2005
• DOI: 10.1183/23120541.00122-2023
• Languages: English
• ISSNs: 2312-0541

Abstract

Primary ciliary dyskinesia (PCD) is a rare, mostly autosomal recessive condition that affects the function of motile cilia in the airways, sinuses, middle ears and reproductive organs. Patients often present early in life with respiratory distress in the neonate and later with recurrent sinopulmonary infections that can progress to end-stage lung disease. Almost two decades have passed since finding the first gene associated with PCD [1, 2]. Now with >50 genes associated with PCD, the task of identifying patients continues to be complex, requiring advanced diagnostic tools and expertise that are not always available in low-income countries. In such settings, the task falls on the shoulders of dedicated and resourceful individuals, and a larger PCD community that is willing to lend a hand in the process. To improve access to care for rare conditions in resource-restricted regions, a concerted effort to establish centres of excellence and training of local physicians is needed https://bit.ly/3ZTBvaj