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Ain Shams University

Cystic Fibrosis in Egyptian Children: Challenging Diagnosis and Management

Strategic Insights

— 1 min read

Research conducted by investigators from Ain Shams University in Cairo, Egypt, has highlighted the significant challenges in diagnosing and managing cystic fibrosis (CF) in Egyptian children. The study, which involved 31 children with CF, found that symptoms started as early as 3 months of age, with a median age of CF diagnosis being 1 year. The study also revealed high rates of consanguinity (54.84%) and sibling affliction (41.94%), indicating a genetic predisposition to the disease. Furthermore, the researchers identified four novel CFTR mutations and found that 59% of patients were underweight and 65% were stunted.

Key Takeaways:

  • The study found that the median age of CF diagnosis was 1 year, with symptoms starting as early as 3 months of age, indicating delayed diagnosis.
  • High rates of consanguinity (54.84%) and sibling affliction (41.94%) were observed, indicating a genetic predisposition to the disease.
  • The researchers identified four novel CFTR mutations and found that 71% of mutations were Class II.
  • 59% of patients were underweight and 65% were stunted due to the disease.
  • Pseudomonas aeruginosa and methicillin-resistant Staphylococcus aureus (MRSA) were isolated in 41.94% and 29.03% of patients, respectively.
  • The study highlights the need for developing national management guidelines and quality improvement initiatives to enhance CF care in Egypt.
  • The research aims to provide a comprehensive summary of Egyptian children with CF, managed at the tertiary CF center, and to outline future directions for developing national management guidelines and quality improvement initiatives.

Statistics:

  • 31 children with CF were included in the study.
  • Symptoms started at 3 months of age and the median age of CF diagnosis was 1 year.
  • 59% of patients were underweight and 65% were stunted.
  • 71% of mutations were Class II.
  • 54.84% of patients had consanguinity and 41.94% had sibling affliction.
  • 41.94% of patients had Pseudomonas aeruginosa and 29.03% had MRSA.

Sources:

  • Characterization of Egyptian Cystic Fibrosis children including genotypes and phenotypes: A Single Tertiary Center Experience. Respiratory Medicine, 2025:108411.
  • NewsRx. Study Findings on Cystic Fibrosis Are Outlined in Reports from Ain Shams University (Characterization of Egyptian Cystic Fibrosis children including genotypes and phenotypes: A Single Tertiary Center Experience). Respiratory Therapeutics Week. October 20, 2025; p 729.

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