From: Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis
No. | Sex | Age at Dx (y) | Age at onset (y) | Weight/ Height (kg/m) | BMI Nutrition status | Family history | Sweat test Cl−, mmol/l) | Pulmonary function FEV1% pred; FEV1/FVC) | Pancreatic insufficiency | Sudan III staining | Gastrointestinal symptoms | Other comorbidities | Diagnosis before CF confirmation | Sputum culture | CFTR Variant 1 | CFTR Variant 2 | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
cDNA name | Protein name (Legacy name) | cDNA name | Protein name (Legacy name) | |||||||||||||||
1 | F | 22 | 10 | 48/1.62 | 18.3 underweight | none | 113.7 | 86.4%; 80.60% | none | NA | chronic gastritis | NP | bronchiectasis; TB | PA | c.2909G > A b | p.G970D (G970D) | c.3068 T > G | p.I1023R |
2 | F | 11 | new born | 39/1.5 | 17.3 | none | 164.7 | 85.9%; 74.66% | none | negative | none | ABPA | none | PA | c.2909G > A b | p.G970D (G970D) | c.2997_3000delAATT | p.I1000* (3129del4) |
3 | F | 14 | 12 | 43/1.65 | 15.8 BMI < P15c | sister died at 7 m for unknown reason | 183 | 60.5%; 62.21% | PI | positive | diarrhea | ABPA | bronchiectasis | MRSA, MSSA | c.2909G > A b | p.G970D (G970D) | c.2909G > A b | p.G970D (G970D) |
4 | F | 18 | 8 | 52/1.62 | 19.8 | None | 199 | 46.7%; 56.87% | none | negative | diarrhea | ABPA | none | PA, MA | c.1766 + 5G > T b | (1898 + 5G- > A) | c.1766 + 5G > T b | (1898 + 5G- > A) |
5 | M | 22 | 2 | 65/1.7 | 22.5 | None | 151.4 | 61.1%; 61.83% | none | negative | none | none | pneumonia | PA | c.607A > T a | p.I203F | c.3635delT | p.V1212Afs*16 |
6–1 | F | 30 | 15 | 45/1.56 | 18.5 | Sister (6–2): CF | 117.9 | 38.4%; 60.32% | none | negative | none | sinusitis, HA | none | PA | c.2909G > A b | p.G970D (G970D) | c.2909G > A b | p.G970D (G970D) |
6–2 | F | 33 | 30 | 50/1.5 | 22.2 | Sister (6–1): CF | 161.1 | 91.6%; 73.32% | none | NA | none | none | none | NA | c.2909G > A b | p.G970D (G970D)) | c.2909G > A b | p.G970D (G970D) |
7 | F | 4 | 0.67 | 15/1.06 | 13.3 BMI < P5c | None | 80 | NA | PI | NA | fatty diarrhea | sinusitis | none | PA | c.325 T > G a | p.Y109D | c.3196C > T b | p.R1066C (R1066C) |
8 | F | 18 | 13 | 55/1.7 | 19.0 | None | 85 | 44.6%; 56.69% | none | negative | none | none | bronchiectasis | PA, MSSA | c.293A > G b | p.Q98R (Q98R) | c.2353C > T b | p.R785* (R785X) |
9 | F | 18 | 11 | 52.5/1.6 | 20.5 | None | 120 | 49.2%; 75.7% | none | negative | none | sinusitis, HA | DPB | PA, MRSA | c.54-?_273 +?del (△E2–3) a | – | not detected | – |
10 | F | 18 | 5 | 45/1.64 | 16.7 underweight | None | 218.4 | 25.9%; 56.26% | none | NA | none | sinusitis, HA | bronchiectasis | negative | c.3883_3886delATTT b | p.I1295Ffs*32 | c.2909G > A b | p.G970D (G970D) |
11 | F | 16 | 0.5 | 30/1.58 | 12.0 BMI < P3c | None | NA | 21.8%; 50.34% | none | NA | None | sinusitis, NP | TB | PA | c.2909G > A | p.G970D (G970D) | c.1657C > T b | p.R553* (R553X) |
12 | M | 12 | 5 | 31/1.48 | 14.2 BMI < P3c | None | 210 | 84.3%; 74.79% | PI | positive | lipid drops in feces, hepatomegaly | sinusitis | bronchiectasis | PA | c.405_406dupAC | p.L136Hfs*18 | c.1388G > A | p.G463D |
13 | M | 22 | 14 | 77/1.78 | 24.3 | None | 192 | 86.1%; 88.35% | none | negative | none | CBAVD, sinusitis | bronchiectasis | SA, KP, PA | c.2125C > T b | p.R709* (R709X) | c.2909G > A b | p.G970D (G970D) |
14 | M | 21 | 10 | 50/1.7 | 17.3 underweight | None | 133 | 46.0%; 60.25% | PI | positive | none | ABPA, CBAVD, sinusitis | TB | PA, MSSA | c.2547C > A b | p.Y849* (Y849X) | c.2909G > A b | p.G970D (G970D) |
15 | F | 20 | 12 | 54/1.7 | 18.7 | None | 63 | 58.3%; 61.37% | none | negative | none | sinusitis, HA | DPB | PA | c.3196C > A | p.R1066S (R1066S) | not detected | – |
16 | F | 16 | 5 | 50/1.7 | 17.3 | sister: repeated pulmonary infection and died at 10 | 154 | 84.7%; 80.91% | none | negative | none | ABPA, sinusitis | bronchopneumonia | PA | c.1679 + 2 T > C | – | c.2658-1G > C b | (2790-1G- > C) |
17 | F | 22 | 14 | 45/1.58 | 18.0 | none | 81 | 93.6%; 88.36% | none | NA | none | ABPA | bronchiectasis | negative | c.293A > G b | p.Q98R (Q98R) | c.293A > G b | p.Q98R (Q98R) |
18 | M | 18 | 6 | 42.5/1.7 | 14.7 underweight | none | 99 | 26.2%; 55.40% | suspected PI | NA | abdominal distension | CBAVD | none | PA | c.595C > T | p.H199Y (H199Y) | c.2909G > A b | p.G970D (G970D) |
19 | F | 44 | 6 | 50/1.62 | 19.1 | none | NA | NA | none | NA | none | none | bronchiectasis | PA | c.1716C > A a | p.D572E | c.2909G > A b | p.G970D (G970D) |