Phenotype | Sweat chloride (mmol/litre) | Genotype | NPD (mV): ΔCl-free+Iso | American guideline (without and with NPD) | European guideline | |
PANC | 30 | DF508 | D1152H | 8 | Unlikely CF | CFTR dysfunction |
AZOOSP | 30 | G542X | R117C | −6 | Unlikely CF | CFTR dysfunction |
AZOOSP | 31 | R117H(7T) | R117H(7T) | −5 | Unlikely CF | CFTR dysfunction |
PANC | 31 | DF508 | 3849+10 kb C>T | 2 | CF | CFTR dysfunction |
AZOOSP | 32 | W1282X | – | −6 | Unlikely CF | CFTR dysfunction |
AZOOSP | 36 | G542X | 5T | −6 | Unlikely CF | CFTR dysfunction |
PANC | 38 | W1282X 5T | 5T | −1 | Unlikely CF | CFTR dysfunction |
AZOOSP | 38 | A198P | – | −5.4 | Unlikely CF | CFTR dysfunction |
PANC | 39 | DF508 | R75Q | −3 | Unlikely CF | CFTR dysfunction |
RESP | 39 | DF508 | L967S | −6 | Unlikely CF | CFTR dysfunction |
Change in CFTR-mediated chloride diffusion following perfusion with a chloride-free solution and isoproterenol (ΔCl-free+Iso): normal (<−12 mV), intermediate (−12 to −7.7 mV) and abnormal (>−7.7 mV).
AZOOSP, obstructive azoospermia; CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; NPD, nasal potential difference; PANC, idiopathic recurrent acute or chronic pancreatitis; RESP, idiopathic sinopulmonary disease.