Original research

An analysis of outcomes in children with cystic fibrosis in a tertiary African centre: A retrospective study.

Reratilwe Ephenia Mphahlele, Visva Naidoo, Stanley Amos Thula, Refiloe Masekela



Background: Cystic Fibrosis (CF) is a common genetic disorder in Caucasians that has become increasingly prevalent in populations of African descent. The clinical presentation in African children with CF is commonly related to nutritional and growth abnormalities.

Aims/Objectives: To describe clinical, laboratory and spirometric characteristics of children followed up at the CF Clinic at Inkosi Albert Luthuli Central Hospital, Durban, South Africa.

Methods: A retrospective chart review of clinical, laboratory and spirometric data of patients registered from January 2013 to January 2016.

Results:  The data was reviewed for 15 patients mean age 132 months (range 26- 219 months), with 53% males. 60% of these children were Caucasians, 26,7% of these being of black African descent. Collectively, the mean age of diagnosis was 45 months (0- 156), although this was higher in the non-Caucasians at 104 months (range 48-156) versus 1,3 months (range 0-3) in Caucasians. The Caucasian group had better nutritional status when compared to non-Caucasians with BMI of 17,2kg/m2 vs 14,5 kg/m2, respectively. Age at diagnosis had a negative correlation with weight-for-age Z score (-0,61; p < 0.05) and BMI (-0,54; p<0.05). The mean FEV1 % predicted was 70.0 (16,1- 120,2). FEV1% predicted had a positive correlation with both weight z-score (0,83; p < 0.001) and BMI (0.59; p < 0.05). Chronic pseudomonas infection occurred only in 2 patients, both of whom were above the age of 16 years. On mutational analysis 5 of the non-Caucasian patients had no mutations identified on the 30 panel mutation used for testing. phelF508.del was the most commonly identified mutation in Caucasians; with 4 homozygotes and 4 heterozygotes.

Conclusion: Cystic fibrosis is diagnosed late in non-Caucasian children in South Africa impacting their growth and lung functions. There is a need for a genetic panel that includes mutations specific for children of African descent.

Authors' affiliations

Reratilwe Ephenia Mphahlele, University of KwaZulu-Natal

Visva Naidoo, University of KwaZulu-Natal

Stanley Amos Thula, University of KwaZulu-Natal

Refiloe Masekela, University of KwaZulu-Natal

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Lung function; Growth; Non-Caucasian; Mutations

Cite this article

African Journal of Thoracic and Critical Care Medicine 2016;22(2):35. DOI:10.7196/SARJ.2016.v22i2.76

Article History

Date submitted: 2016-04-04
Date published: 2016-07-01

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