Genotype and clinical features in pancreatic insufficient boys
| Pt no. | Age (y) | Sweat chloride | CFTR mutations | FEV1 | Wt | Ht | Sh. score |
|---|---|---|---|---|---|---|---|
| FEV1, forced expiratory volume in 1 second; Wt , weight, percentile for age; Ht, height, percentile for age; Sh. score, Shwachman score. | |||||||
| 1 | 2 | 69 | W1282X/405+1G→A | – | 3 | 3 | 77 |
| 2 | 3 | 100 | W1282X/W1282X | 98% | 50 | 75 | 92 |
| 3 | 5 | 78 | Unknown | 94% | 50 | 10 | 92 |
| 4 | 6 | 75 | Unknown | 86% | 50 | 25 | 85 |
| 5 | 7 | 76 | W1282X/G542X | 105% | 95 | 40 | 90 |
| 6 | 8 | 99 | W1282X/ΔF508 | 112% | 85 | 50 | 98 |
| 7 | 9 | 90 | S549R/S549R | 77% | 25 | 10 | 70 |
| 8 | 10 | 84 | W1282X/ΔF508 | 102% | 25 | 20 | 89 |
| 9 | 10 | 97 | W1282X/ΔF508 | 87% | 50 | 50 | 98 |