Revisiting sweat chloride test results based on recent guidelines for diagnosis of cystic fibrosis

Abstract

Objectives: Recent sweat chloride guidelines published by the Cystic Fibrosis Foundation changed the intermediate sweat chloride concentration range from 40–59 mmol/L to 30–59 mmol/L for age > 6 months. We wanted to know how this new guideline would impact detection of cystic fibrosis among patients who previously had sweat tests done at Texas Children's Hospital. Methods: We revisited sweat chloride test results (n = 3012) in the last 5 years at Texas Children's Hospital based on the new guidelines on diagnosis of cystic fibrosis from the Cystic Fibrosis Foundation. Results: We identified 125 patients that would be reclassified in the intermediate sweat chloride value with the new guidelines that were classified as “unlikely to have CF” in the previous guidelines. 8 (32%) patients with CFTR gene testing were positive for CFTR gene mutation(s). 4 (50%) of these patients were identified to have 2 CFTR mutations. One had variant combination that was reported to cause CF but all were diagnosed with CFTR-related metabolic syndrome. Conclusion: Our findings concur with the new CF diagnosis guidelines that changing the intermediate cut-off to 30–59 mmol/L sweat chloride concentration in combination with CFTR genetic analysis enhances the probability of identifying individuals that have risk of developing CF or have CF and enables for earlier therapeutic intervention.

Keywords

• Cystic fibrosis
• Updated guideline
• Sweat chloride
• Pilocarpine iontophoresis