Van Rensburg, J.Alessandrini, MarcoStewart, CherylPepper, Michael Sean2018-11-292018-11-292018-08Van Rensburg, J., Alessandrini, M., Stewart, C. et al. 2018, 'Cystic fibrosis in South Africa : a changing diagnostic paradigm', South African Medical Journal, vol. 108, no. 8, pp. 624-628.0256-9574 (print)2078-5135 (online)10.7196/SAMJ.2018.v108i8.13225http://hdl.handle.net/2263/67395Cystic fibrosis (CF), one of the most commonly observed and diagnosed fatal monogenic disorders globally, was initially thought to affect individuals of Caucasian/European descent almost exclusively. It is increasingly appreciated, however, that non-Caucasian populations are also affected by this condition. Although this has been known in South Africa (SA) for over two decades, a large disparity still exists in data pertaining to the different population groups in the country. This article seeks to highlight existing published data on CF in SA populations and reflects on the means through which these have been generated over the years. Additionally, the article briefly discusses the consequences of incomplete data and how this could potentially be addressed in the future through innovative and collaborative approaches.en© 2018, South African Medical Association. All rights reserved. This article is licensed under a Creative Commons Attribution-NonCommercial Works License (CC BY-NC 3.0).Caucasian populationsDiagnosed fatal monogenic disordersSouth Africa (SA)Cystic fibrosis (CF)Article