Clinical characteristics of p.Arg117His patients
| p.Arg117His/class I or II | p.Arg117His/p.Gly551Asp | p.Phe508del homozygotes | p-value | ||
| 5T# | 7T# | ||||
| Patients n | 39 | 10 | 6 | 191 | |
| Age years | 29.5±18 | 10±13.2 | 33±13.3 | 20.2±1 | 0.001## |
| Male % | 62 | 50 | 50 | 60.0 | 0.893 |
| Age at diagnosis years | 16±21 | 3.4±10.6 | 13.6±19 | 1.7±5.4 | <0.0001##,§§ |
| Age at diagnosis due to symptoms (n) years | (20) 23.9±24 | – | (3) 22.4±21 | (70) 1.8±5.2 | 0.01## |
| Diagnostic features¶ n (%) | |||||
| Screening or family history+ | 14 (35.9) | 9 (90) | 1 (16.7) | 98 (50.2) | 0.004¶¶ |
| Respiratory symptoms | 15 (38.5) | 0 | 2 (33.3) | 16 (8.4) | <0.0001## |
| Gastrointestinal symptoms | 2 (5.1) | 0 | 0 | 28 (14.7) | 0.181 |
| Meconium ileus | 2 (5.1) | 0 | 0 | 29 (15.2) | 0.119 |
| Mean sweat chloride mEq·L–1 (n) | 82±14 (28) | 35±8 (10) | 83±38 (4) | 110±15 (72) | <0.0001##,¶¶,§§ |
| Current clinical features | |||||
| Pancreatic insufficient % | 32.4 | 11.1 | 50 | 100 | <0.0001##,++,§§ |
| BMI kg·m–2§ (n) | 25±5 (28) | 24.8 (1) | 29.4±4 (5) | 21.5±3 (100) | <0.0001##,§§ |
| BMI percentileƒ (n) | 80±21 (7) | 62±37 (6) | 91 (1) | 47.5 (74) | 0.011## |
| CFRD % | 0 | 0 | 0 | 21 (11.5) | 0.089 |
| Liver disease % | 2.7 | 0 | 0 | 38 (20.8) | 0.018## |
Data are presented as mean±sd, unless otherwise stated. BMI: body mass index; CFRD: cystic fibrosis (CF)-related diabetes. Clinical features of patients with p.Arg117His classified according to IVS9T length and second mutation, and compared with p.Phe508del homozygotes. #: IVS9T length was determined for 50 out of 55 patients in this group; ¶: more than one diagnostic feature may be present per patient, information was missing in some patients; +: diagnosis following neonatal screening or a sibling with CF; §: BMI was calculated for adults; ƒ: BMI percentile was calculated for children. After Bonferroni corrections, differences were significant for comparisons: ##: between 5T and p.Phe508del; ¶¶: between 7T and p.Arg117His/p.Gly551Asp; ++: between 7T and p.Phe508del; §§: between p.Arg117His/p.Gly551Asp and p.Phe508del.