Diagnosing cystic fibrosis in South Africa

Westwood, Tony; Henderson, Bertram; Ramsay, Michele

Diagnosing cystic fibrosis in South Africa

Journal Article

2006

Journal Title

South African Medical Journal

Link to Journal

http://www.samj.org.za/index.php/samj

Publisher

University of Cape Town

Department

Division of Paediatric Medicine

Faculty

Faculty of Health Sciences

Abstract

Cystic fibrosis (CF) occurs in all South Africa’s population groups. While well described in the white and coloured populations, its presence in black African populations is less well known. Recent evidence from the group of CF patients in the Western Cape suggests an incidence of 1 in 3 000 and 1 in 10 300 live births in the white and coloured populations respectively.1 In black South African populations, carrier frequency estimates have been used to project an incidence of 1 in 4 624 live births.2 Further evidence of the presence of CF in these populations is presented in this issue of the Journal. 3 While considering or being aware of the diagnosis is the first step in identifying CF, diagnosing the disease presents challenges at clinical and laboratory levels in South Africa. In simple terms, the diagnosis of CF requires a patient to have suggestive clinical features as well as 2 positive sweat tests and/or 2 identified disease-causing CF transmembrane conductance regulator (CFTR) gene mutations.

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