Cystic fibrosis in South Africa: A changing diagnostic paradigm
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Date
2018-7-25
Authors
Van Rensburg, J
Alessandrini, M
Stewart, C
Pepper, M S
Journal Title
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Volume Title
Publisher
South African Medical Association NPC
Abstract
Cystic 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.
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Citation
Van Rensburg J, Alessandrini M, Stewart C, Pepper MS. Cystic fibrosis in South Africa: A changing diagnostic paradigm. S Afr Med J. 2018 Jul 25;108(8):624-628. doi: 10.7196/SAMJ.2018.v108i8.13225.