Family 1 Family 1 Family 2 Family 2 Family 3 Family 3 Family 3
Patient 1 Patient 2 Patient 1 Patient 2 Patient 1 Patient 2 Patient 3
Genotype
F508del/ G85E F508del/ G85E F508del/ F508del F508del/ F508del I1234V/ I1234V I1234V/ I1234V I1234V/ I1234V
Consanguinity No No Yes Yes Yes Yes Yes
Gender Male Female Male Female Male Male Female
Age at sample collection (years)
12
16
6
3
7
19
9
Age at diagnosis 3 months 4 months 5 months 1 week 5,5 years 16 years 6 years
Sweat chloride concentration (mmol/L) 96 110 101 96 88 80 150
FEV1 (% predicted) 88 105 NA NA 99 89 53
History of pseudobartter syndrome Yes No Yes Yes No No Yes
Meconium ileus No No No No No No No
Malabsorpsion Yes Yes Yes Yes Yes Yes Yes
Recurrent lung infection
No
No
Yes
Yes, Progressive
No
Yes
Yes, Progressive
Comorbidity
Mild hepatic involvement
Severe hepatic involvement with cirrhosis, CFRD1
Mild hepatic involvement
Severe hepatic involvement
No
No
No
Pancreatitis No No No No No Yes No
Disease severity Mild Severe Mild Severe Mild Intermediate Severe
Treatment Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics Multivitamin supplementation, Salt replacement therapy, Mucolytic therapy, PERT2, Antibiotics