Cystic fibrosis other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Other diagnostic studies in patients with cystic fibrosis include sweat chloride test and nasal potential differences which used to detect changes in CFTR function.
Other Diagnostic Studies
Other diagnostic studies in patients with cystic fibrosis include:[1][2]
Sweat chloride test:
- This test is an indicator of CFTR function and measures the chloride content of the sweat in the patients with cystic fibrosis. Sweat chloride test is critical to distinguish cystic fibrosis from other causes of severe pulmonary and pancreatic insufficency.
- A sweat chloride values are considered as follow:
- More than 60 mmol/L: diagnostic for cystic fibrosis
- 30-59 mmol/L: needs more evaluation with CFTR genetic analysis
- Less than 30: unlikely cystic fibrosis
| Sweat chloride test | |||||||||||||||||||||||||||||||||||||
| ≥60 mmol/L | 30-59 mmol/L | ≤29 mmol/L | |||||||||||||||||||||||||||||||||||
| CFTR genetic analysis | |||||||||||||||||||||||||||||||||||||
| 2 CF-causing CFTR mutation | No CFTR mutations | ||||||||||||||||||||||||||||||||||||
| EF diagnosis | CF unlikely | ||||||||||||||||||||||||||||||||||||
Nasal Potential Difference (NPD):
- In patients with cystic fibrosis NPD is performed by running different solutions through the nose. Voltage measurements from these solutions are used to detect changes in CFTR function.
References
- ↑ Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.
- ↑ Shah U, Moatter T (2006). "Screening for cystic fibrosis: the importance of using the correct tools". J Ayub Med Coll Abbottabad. 18 (1): 7–10. PMID 16773960.