| Autor: |
Jayson V. Pagaduan, Mahesheema Ali, Michael Dowlin, Liye Suo, Tabitha Ward, Fadel Ruiz, Sridevi Devaraj |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Practical Laboratory Medicine, Vol 10, Iss C, Pp 34-37 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2352-5517 |
| DOI: |
10.1016/j.plabm.2018.01.001 |
| 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 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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