In Practice

Cystic fibrosis in South Africa: A changing diagnostic paradigm

J van Rensburg, M Alessandrini, C Stewart, M S Pepper

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.


Authors' affiliations

J van Rensburg, South African Medical Research Council Extramural Unit for Stem Cell Research and Therapy and Institute for Cellular and Molecular Medicine, Department of Immunology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa

M Alessandrini, South African Medical Research Council Extramural Unit for Stem Cell Research and Therapy and Institute for Cellular and Molecular Medicine, Department of Immunology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa; Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Switzerland

C Stewart, South African Medical Research Council Extramural Unit for Stem Cell Research and Therapy and Institute for Cellular and Molecular Medicine, Department of Immunology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa; Department of Basic Medical Sciences, Faculty of Medical Sciences, University of the West Indies, Mona, Jamaica

M S Pepper, South African Medical Research Council Extramural Unit for Stem Cell Research and Therapy and Institute for Cellular and Molecular Medicine, Department of Immunology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa

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Keywords

Cystic fibrosis; South Africa; Genetics; Diagnosis; Next-generation sequencing

Cite this article

South African Medical Journal 2018;108(8):624-628. DOI:10.7196/SAMJ.2018.v108i8.13225

Article History

Date submitted: 2018-07-25
Date published: 2018-07-25

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