Cystic fibrosis in Cape Town

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.