Revisiting sweat chloride test results based on recent guidelines for diagnosis of cystic fibrosis
| Autor: | Sridevi Devaraj, Fadel Ruiz, Liye Suo, Tabitha Ward, Mahesheema Ali, Jayson V. Pagaduan, Michael Dowlin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Clinical Biochemistry Sweat chloride Pilocarpine iontophoresis 02 engineering and technology 01 natural sciences Cystic fibrosis Article Cftr gene SWEAT lcsh:Chemistry Internal medicine medicine lcsh:R5-920 Radiological and Ultrasound Technology business.industry Updated guideline 010401 analytical chemistry Guideline Hospital based 021001 nanoscience & nanotechnology medicine.disease 0104 chemical sciences lcsh:QD1-999 Metabolic syndrome 0210 nano-technology business lcsh:Medicine (General) |
| Zdroj: | Practical Laboratory Medicine, Vol 10, Iss C, Pp 34-37 (2018) Practical Laboratory Medicine |
| ISSN: | 2352-5517 |
| Popis: | 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 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. |
| Databáze: | OpenAIRE |
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