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Table 3 Main characteristics of the 3 patients with idiopathic bronchiectasis bearing a missense mutation in ENaCγ gene

From: Could a defective epithelial sodium channel lead to bronchiectasis

 

Age (years)

Sex

BMI (Kg.m-2)

FEV1 (%pred.)

CFTR mutation

ENaCγ mutation

Sweat Cl(mmol/L)

Basal PD (mV)

Group 1

36

F

20

90

none

p.Gly183Ser

7

- 39

Group 2

24

F

19

64

none

p.Glu197Lys

11

- 17

 

46

M

22

35

none

p.Glu197Lys

17

- 18

  1. F : female, M : male, BMI : body mass index, FEV1 : forced expiratory volume in 1 second, pred : predicted, PD : nasal potential difference.