Cystic fibrosis prevalence among a group of high-risk children in the main referral children hospital in Iran

摘要

Background: Knowledge about cystic fibrosis (CF) in Iran is very limited. The objective of this study was to determine the prevalence of CF among a group of high-risk children with suggestive clinical features in the main referral hospital in Iran. Materials and Methods: This study children consisted of 505 patients who had presented with one or more of the following symptoms: chronic or recurrent respiratory symptoms, gastrointestinal symptoms as rectal prolapse, steatorrhea, hepatobiliary disease as prolonged jaundice, failure to thrive, hyperglycemia and glycosuria, hypochloremic metabolic alkalosis, hypoprothrombinemia, anemia or edema, and positive family history of CF. Patients were screened using pilocarpine iontophoresis to collect sweat and chemical analysis of its chloride content with classic Gibson and Cooke technique. Results: Of 505 patients, 89 (17.6%) had positive sweat chloride screening test. Five (1%) patients had required cystic fibrosis transmembrane conductive regulator protein mutation analysis to confirm CF. Conclusion: Our findings suggest that in Iran, CF is more common than what previously anticipated. Larger studies are warranted to identify the incidence, molecular basis, and clinical pattern of CF in the Iranian population.