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Cystic fibrosis in Saudi Arabia: common and rare presentations
K F Al-Mobaireek1, A M Abdullah
1Department of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia.
Insights
Cystic fibrosis (CF) is prevalent in Saudi Arabia, with children often diagnosed late due to a lack of awareness. Early Pseudomonas aeruginosa colonization is a significant concern in pediatric CF cases.
Area of Science:
- Pediatrics
- Genetics
- Pulmonology
Background:
- Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
- Early diagnosis and management are crucial for improving outcomes in pediatric CF patients.
Purpose of the Study:
- To describe the clinical characteristics and diagnostic challenges of cystic fibrosis in children at King Khalid University Hospital.
- To highlight the prevalence and implications of early Pseudomonas aeruginosa colonization.
Main Methods:
- Retrospective case series analysis of 12 pediatric patients with confirmed cystic fibrosis.
- Review of clinical presentations, diagnostic timelines, genetic origins, and complications.
Main Results:
- The study identified 12 pediatric CF cases (10 Saudi, 2 African) with a mean age at diagnosis of 14.3 months.
- Common symptoms included growth failure, recurrent chest infections, chronic diarrhea, and pseudo-Bartter syndrome (8 cases).
- Early Pseudomonas aeruginosa colonization (67%) and delayed diagnosis underscore the need for increased awareness.
Conclusions:
- Cystic fibrosis is not rare in Saudi Arabia, necessitating greater clinical awareness to prevent diagnostic delays.
- Proactive strategies are required to mitigate early Pseudomonas aeruginosa colonization in pediatric CF patients.
Abstract:
The clinical presentations of 12 children with cystic fibrosis seen in King Khalid University Hospital are presented. Ten were of Saudi origin and the other two were African. The mean age of onset of symptoms was 2.3 months, and the mean age at diagnosis was 14.3 months (range 3-48 months). Seven children were boys and five were girls. All children presented with growth failure, recurrent chest infection and chronic diarrhoea. The parents of 83% of our cases were first-degree relatives. Pseudo-Bartter syndrome was seen in eight children. Sixty-seven per cent of our cases were colonized with Pseudomonas aeruginosa by the time of diagnosis, despite their young age (mean 7 months). Peripheral neuropathy secondary to vitamin E deficiency, meconium ileus, nasal polyps and gall-stones were present, each in one case. On follow-up, one child died and the other 11 are still alive. We concluded that cystic fibrosis is not rare in Saudi Arabia and that increased awareness of the disease is needed to avoid delay in diagnosis. Efforts should be made to prevent early colonization by Pseudomonas aeruginosa.