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 (measures the chloride content of the sweat) and nasal potential differences (performed by running different solutions through the nose) which used to detect changes in CFTR function. A sweat chloride value of more than 59 mmol/L is diagnostic for cystic fibrosis and less than 30 mmol/L is unlikely cystic fibrosis.
Other Diagnostic Studies
Other diagnostic studies in patients with cystic fibrosis include:[1][2][3][4]
Sweat chloride test:
- Sweat chloride test is an indicator of CFTR function and measures the chloride content of the sweat in the patients with cystic fibrosis. This test is critical to distinguish cystic fibrosis from other causes of severe pulmonary and pancreatic insufficency.
- Sweat chloride test should performed as soon as possible (even in 48 hours after birth) when positive screening results are reported.
- Sweat chloride test results are considered as follow:
- More than 59 mmol/L: diagnostic for cystic fibrosis
- 30-59 mmol/L: needs more evaluation with CFTR genetic analysis
- Less than 30 mmol/L: 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.
- ↑ Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR (February 2017). "Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation". J. Pediatr. 181S: S4–S15.e1. doi:10.1016/j.jpeds.2016.09.064. PMID 28129811.
- ↑ Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR (February 2017). "Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation". J. Pediatr. 181S: S4–S15.e1. doi:10.1016/j.jpeds.2016.09.064. PMID 28129811.