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Cystic fibrosis in Cape Town
I D Hill1, W B MacDonald, M D Bowie
1Department of Paediatrics and Child Health, University of Cape Town.
Insights
Cystic Fibrosis (CF) diagnosis is often delayed, with many children experiencing symptoms before accurate diagnosis. Early detection and management are crucial for improving outcomes in CF patients.
Area of Science:
- Pediatrics
- Pulmonology
- Medical Genetics
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs, primarily the lungs and digestive system.
- Early diagnosis and consistent management are critical for improving the prognosis of CF patients.
- Understanding the epidemiology and diagnostic patterns of CF is essential for public health initiatives.
Purpose of the Study:
- To determine the incidence and prevalence of Cystic Fibrosis in Cape Town.
- To analyze the diagnostic timelines and presenting symptoms of CF patients.
- To evaluate the clinical status and mortality rates of CF patients.
Main Methods:
- Retrospective study of 106 Cystic Fibrosis patients at Red Cross War Memorial Children's Hospital.
- Analysis of diagnostic age, presenting symptoms, and clinical scores.
- Calculation of CF incidence and prevalence rates based on birth and patient data.
Main Results:
- 95% of CF patients showed symptoms by 1 year, but only 63% were diagnosed correctly.
- 27% of diagnoses were delayed until after 5 years of age.
- Chronic lung disease, failure to thrive, and diarrhea were common symptoms; 79% of current patients have mild or better clinical scores.
- Overall mortality was 21%, primarily due to severe chest disease.
- CF incidence in Cape Town: 1/2,000 for whites, 1/12,000 for coloureds.
- Higher prevalence in urban than rural areas suggests underdiagnosis in rural populations.
Conclusions:
- Delayed diagnosis of Cystic Fibrosis is a significant issue, impacting patient outcomes.
- Effective management leads to better clinical status in a majority of patients.
- CF prevalence is higher in urban Cape Town, indicating potential underdiagnosis in rural regions.
Abstract:
A retrospective study of all patients with cystic fibrosis (CF) seen at the Red Cross War Memorial Children's Hospital was undertaken. A total of 106 patients were identified and of these 64 still attend the CF clinic regularly. By 1 year of age 95% had symptoms but only 63% had been correctly diagnosed. In 27% the diagnosis was only made after 5 years of age. Chronic lung disease, failure to thrive, and diarrhoea or steatorrhoea were the most common presenting symptoms. Clinical scores of those still attending the clinic show that 79% are in the mild or better categories. The overall mortality rate was 21% and death was due to severe chest disease in the vast majority of cases. On the basis of the number of new patients with CF born during a 4-year period and the total number of live births recorded in this time, the calculated incidence of CF in Cape Town was 1/2,000 for whites and 1/12,000 for coloureds. Calculated prevalence rates for both whites and coloureds were much higher in urban Cape Town than in the rural areas of the western Cape. This suggests that many cases remain undiagnosed in the rural areas.