Table 1 Clinical data and characteristics of CFTR gene mutations in eight Chinese CF patients examined in the current study
From: p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis
Case | C1 | C2 | C3 | C4 | C5 | C6 | C7 | C8 |
|---|---|---|---|---|---|---|---|---|
Age at diagnosis | 20 | 15 | 1 | 13 | 15 | 22 | 4 | 13 |
Gender | M | F | F | M | M | F | F | F |
Age at onset of symptom | Several months | 12 Years | 4 Months | 1 Year | 14 Years | 12 Years | 3 Months | 12 Years |
Wt/Ht(kg/m) | 52/1.74 | 42/1.65 | 8/NA | 48/1.6 | 55/1.78 | 45/1.67 | 11/0.93 | 32/1.49 |
Family history | None | None | Yes | None | Yes | Yes | None | None |
Sweat test [Cl−] (mmol/l) | 137 | 140 | 108.4 | 95.2 | 106.5 | 101.9 | 122.1 | 62 |
Gastrointestinal symptoms | Recurrent diarrhea, marasmus | Marasmus | Recurrent diarrhea; Meconium ileus suspected | None | None | Marasmus | Malnutrition | Malnutrition |
Comorbidity | None | None | None | ABPA | None | ABPA | None | ABPA |
Pulmonary function test | FEV1 43.6% PRED FEV1/FVC 56.96% | Not available | Not available | FEV1 61.4% PRED FEV1/FVC 74.5% | FEV1 81.7% PRED FEV1/FVC 77.01% | FEV1 30.2% PRED FEV1/FVC 47.98% | Not available | FEV1 72.9% PRED FEV1/FVC 69.48% |
Diagnosis before CF confirmation | Bronchiectasis | Bronchiectasis | Bartter Syndrome | Bartter Syndrome and bronchiectasis | Bronchiectasis | Bronchiectasis | Bronchiectasis | ABPA |
PS/PI | PI suspected | PI | PI suspected | PS | PS | PS | PS | PS |
Sudan III Staining | Negative | Positive | Negative | Negative | Negative | Negative | Negative | Negative |
Sputum culture | Pseudomonas Aeruginosa | Pseudomonas Aeruginosa | Pseudomonas Aeruginosa and Methicillin Resistant Staphylococus Epidermidis | Pseudomonas Aeruginosa | Pseudomonas Aeruginosa | Escherichia coli (extended-spectrum beta-lactamase+) and Pseudomonas Aeruginosa | Pseudomonas Aeruginosa | Negative |
CFTR allele 1 | ||||||||
 Nucleotide change | c.2909G>A | c.2909G>A | c.2909G>A | c.3700A>G | c.3635delT a | c.2909G>A | c.2909G>A | c.2909G>A |
 Amino acid change | p.G970D | p.G970D | p.G970D | p.I1234V | p.V1212Afs*15 | p.G970D | p.G970D | p.G970D |
CFTR allele 2 | ||||||||
 Nucleotide change | c.1521_1523delCTT | c.2374C>T | c.2125C>T | c.959–960insA | not detected b | c.1997T>G a | c.263T>G | c.2907A>C a |
 Amino acid change | p.F508del | p.R792* | p.R709* | p.S321Ifs*42 | NA | p.L666* | p.L88* | p.A969A (ΔE17 p.N886Kfs*4) |
