Article ID Journal Published Year Pages File Type
6240626 Journal of Cystic Fibrosis 2013 4 Pages PDF
Abstract

IntroductionCystic fibrosis (CF) is the most common genetic disorder in Caucasians. Presentation of CF in non-Caucasians is less well studied.ObjectiveThis audit was undertaken to determine the phenotypic expression of the 3120 + 1G > A mutation in black and mixed race children in South Africa.MethodsA multi-centre retrospective chart review of clinical, laboratory and spirometry data of non-Caucasian CF patients in four CF centres in South Africa was collected. Data was collected at diagnosis and after a five-year follow-up period. Ethical approval was granted for the study.ResultsA total of 30 participants were enrolled of whom 14 (47%) were homozygous and 16 (53%) heterozygous for the 3120 + 1G > A mutation. The mean age of diagnosis was 13 months. Twenty-four (80%) patients had malnutrition (mean weight z-score − 3.6) or failure to thrive (77%) at presentation. Twenty (67%) presented with non-specific abdominal symptoms, whilst fifteen (50%) had recurrent respiratory tract infections. Pseudomonas aeruginosa was detected at a mean age of 21 months. The mean FEV1 was 73% predicted (95% CI 54.0-91.1) at study entry and 68% predicted (95% CI 49.74-87.06) at follow-up.ConclusionFailure to thrive and a diagnosis of protein energy malnutrition (kwashiorkor) are the common presenting features of CF in children with the 3120 + 1G > A mutation. Meconium ileus is a rare presenting feature of CF in black and mixed race children with this deletion in South Africa.

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