Table 2 Main characteristics of the 5 patients with idiopathic bonchiectasis bearing a missense mutation in ENaCβ gene
From: Could a defective epithelial sodium channel lead to bronchiectasis
Age (years) | Sex | BMI (Kg.m-2) | FEV1 (%pred.) | CFTR mutation | ENaCβ mutation | Sweat Cl- (mmol/L) | Basal PD (mV) | |
|---|---|---|---|---|---|---|---|---|
Group 1 | 66 | F | 22 | 77 | IVS8-5T | p.Ser82Cys | 44 | - 13 |
62 | F | 19 | 89 | F508del | p.Ser82Cys | 38 | - 8 | |
35 | F | 23 | 86 | none | p.Pro369Thr | 22 | - 43 | |
60 | F | 21 | 93 | none | p.Asn288Ser | 57 | - 10 | |
Group 2 | 67 | M | 20 | 80 | IVS8-5T | p.Ser82Cys | 28 | - 22 |