Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa

  • R. M
  • M. Z
  • A.T. W
  • et al.
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Abstract

Introduction: Cystic fibrosis (CF) is the most common genetic disorder in Caucasians. Presentation of CF in non-Caucasians is less well studied. Objective: This audit was undertaken to determine the phenotypic expression of the 3120 + 1G >. A mutation in black and mixed race children in South Africa. Methods: A 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. Results: A 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. Conclusion: Failure 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. © 2012 European Cystic Fibrosis Society.

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R., M., M., Z., A.T., W., D.A., W., R.J., G., S., O., … Kwofie-Mensah, M. (2013). Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa. Journal of Cystic Fibrosis, 12(4), 363–366. https://doi.org/10.1016/j.jcf.2012.11.003

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