Cystic fibrosis in South Africa: A changing diagnostic paradigm
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 co...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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South African Medical Association
2018-07-01
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| Series: | South African Medical Journal |
| Online Access: | http://www.samj.org.za/index.php/samj/article/download/12367/8559 |
| _version_ | 1797369856090177536 |
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| author | M Pepper C Stewart J van Rensburg M Alessandrini |
| author_facet | M Pepper C Stewart J van Rensburg M Alessandrini |
| author_sort | M Pepper |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T17:52:56Z |
| format | Article |
| id | doaj.art-2d68e25311a8416eba646a50f76e943c |
| institution | Directory Open Access Journal |
| issn | 0256-9574 2078-5135 |
| language | English |
| last_indexed | 2024-03-08T17:52:56Z |
| publishDate | 2018-07-01 |
| publisher | South African Medical Association |
| record_format | Article |
| series | South African Medical Journal |
| spelling | doaj.art-2d68e25311a8416eba646a50f76e943c2024-01-02T06:29:07ZengSouth African Medical AssociationSouth African Medical Journal0256-95742078-51352018-07-01108862462810.7196/SAMJ.2018.v108i8.13225Cystic fibrosis in South Africa: A changing diagnostic paradigmM PepperC StewartJ van RensburgM AlessandriniCystic 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.http://www.samj.org.za/index.php/samj/article/download/12367/8559 |
| spellingShingle | M Pepper C Stewart J van Rensburg M Alessandrini Cystic fibrosis in South Africa: A changing diagnostic paradigm South African Medical Journal |
| title | Cystic fibrosis in South Africa: A changing diagnostic paradigm |
| title_full | Cystic fibrosis in South Africa: A changing diagnostic paradigm |
| title_fullStr | Cystic fibrosis in South Africa: A changing diagnostic paradigm |
| title_full_unstemmed | Cystic fibrosis in South Africa: A changing diagnostic paradigm |
| title_short | Cystic fibrosis in South Africa: A changing diagnostic paradigm |
| title_sort | cystic fibrosis in south africa a changing diagnostic paradigm |
| url | http://www.samj.org.za/index.php/samj/article/download/12367/8559 |
| work_keys_str_mv | AT mpepper cysticfibrosisinsouthafricaachangingdiagnosticparadigm AT cstewart cysticfibrosisinsouthafricaachangingdiagnosticparadigm AT jvanrensburg cysticfibrosisinsouthafricaachangingdiagnosticparadigm AT malessandrini cysticfibrosisinsouthafricaachangingdiagnosticparadigm |