Table 3.
The Distribution of Mutations According to Clinical Features of Patients With IBD
| Total | Homozygous* | Heterozygous* | Compound Heterozygous* | P | |||||
|---|---|---|---|---|---|---|---|---|---|
| N = 224 | n = 62 (27.7%) | n = 155 (69.2%) | n = 7 (3.1%) | ||||||
| n | % | n | % | n | % | n | % | ||
| Age (years) | |||||||||
| ≤5 | 44 | 19.6 | 13 | 21.0 | 29 | 18.7 | 2 | 28.6 | .776 |
| >5 | 180 | 80.4 | 49 | 79.0 | 126 | 81.3 | 5 | 71.4 | |
| Gender | |||||||||
| Male | 116 | 51.8 | 35 | 56.5 | 76 | 49.0 | 5 | 71.4 | .363 |
| Female | 108 | 48.2 | 27 | 43.5 | 79 | 51.0 | 2 | 28.6 | |
| Consanguinity | 44 | 21.1 | 10 | 17.2 | 33 | 22.9 | 1 | 14.3 | .606 |
| Family history of IBD except parents | 9 | 4.7 | 5 | 8.9 | 4 | 3.1 | 0 | 0 | |
| FMF mutation | 219 | 97.8 | 62 | 100 | 155 | 100 | 2 | 28.6 | .247 |
| Perianal disease | |||||||||
| Abscess | 7 | 3.1 | 2 | 3.2 | 5 | 3.2 | 0 | 0 | 1.000 |
| Fissure | 9 | 4.0 | 4 | 6.5 | 4 | 2.6 | 1 | 14.3 | .094 |
| Fistula | 4 | 1.8 | 0 | 0 | 4 | 2.6 | 0 | 0 | .632 |
| Skin Tag | 2 | 0.9 | 0 | 0 | 2 | 1.3 | 0 | 0 | 1.000 |
| Diagnosis | |||||||||
| Ulcerative colitis | 122 | 54.5 | 32 | 51.6 | 86 | 55.5 | 4 | 57.1 | .933 |
| Crohn disease | 85 | 37.9 | 24 | 38.7 | 58 | 37.4 | 3 | 42.9 | |
| Indeterminate colitis | 17 | 7.6 | 6 | 9.7 | 11 | 7.1 | 0 | 0 | |
| PUCAI | 44.2 ± 20.3 | 42.5 ± 18.4 | 43.6 ± 20.7 | 67.5 ± 16.6 | .090 | ||||
| PCDAI | 37.4 ± 17.1 | 41.0 ± 14.1 | 35.9 ± 17.5 | 40.3 ± 30.2 | .344 | ||||
| Crohn Disease | |||||||||
| Distribution | |||||||||
| Localized | 48 | 57.1 | 17 | 70.8 | 30 | 52.6 | 1 | 33.3 | .215 |
| Disseminated | 36 | 42.9 | 7 | 29.2 | 27 | 47.4 | 2 | 66.7 | |
| Colonoscopy Rectum | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 19 | 23.8 | 4 | 17.4 | 15 | 27.3 | 0 | 0 | .838 |
| Ulceration and stricture | 2 | 2.5 | 0 | 0 | 2 | 3.6 | 0 | 0 | |
| Fistula | 2 | 2.5 | 0 | 0 | 2 | 3.6 | 0 | 0 | |
| >5 aphthous lesion | 6 | 7.5 | 3 | 13.0 | 3 | 5.5 | 0 | 0 | |
| <5 aphthous lesion | 9 | 11.3 | 3 | 13.0 | 6 | 10.9 | 0 | 0 | |
| Normal | 42 | 52.5 | 13 | 56.5 | 27 | 49.1 | 2 | 100 | |
| Sigmoid | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 17 | 21.3 | 3 | 13.0 | 14 | 25.5 | 0 | 0 | .881 |
| Fistula | 1 | 1.3 | 0 | 0 | 1 | 1.8 | 0 | 0 | |
| >5 aphthous lesion | 6 | 7.5 | 2 | 8.7 | 4 | 7.3 | 0 | 0 | |
| <5 aphthous lesion | 12 | 15.0 | 4 | 17.4 | 8 | 14.5 | 0 | 0 | |
| Normal | 44 | 55.0 | 14 | 60.9 | 28 | 50.9 | 2 | 100 | |
| Left colon | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 14 | 18.4 | 1 | 4.5 | 13 | 25.0 | 0 | 0 | .84 |
| Ulceration and stricture | 3 | 3.9 | 0 | 0 | 3 | 5.8 | 0 | 0 | |
| >5 aphthous lesion | 4 | 5.3 | 2 | 9.1 | 2 | 3.8 | 0 | 0 | |
| <5 aphthous lesion | 11 | 14.5 | 3 | 13.6 | 8 | 15.4 | 0 | 0 | |
| Normal | 44 | 57.9 | 16 | 72.7 | 26 | 50.0 | 2 | 100 | |
| Right colon | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 11 | 15.1 | 2 | 9.1 | 9 | 18.4 | 0 | 0 | .585 |
| Fistula | 1 | 1.4 | 1 | 4.5 | 0 | 0 | 0 | 0 | |
| >5 aphthous lesion | 9 | 12.3 | 4 | 18.2 | 5 | 10.2 | 0 | 0 | |
| <5 aphthous lesion | 14 | 19.2 | 3 | 13.6 | 11 | 22.4 | 0 | 0 | |
| Normal | 38 | 52.1 | 12 | 54.5 | 24 | 49.0 | 2 | 100 | |
| Cecum | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 14 | 19.4 | 6 | 27.3 | 8 | 16.7 | 0 | 0 | .796 |
| Ulceration and stricture | 3 | 4.2 | 1 | 4.5 | 2 | 4.2 | 0 | 0 | |
| >5 aphthous lesion | 7 | 9.7 | 3 | 13.6 | 4 | 8.3 | 0 | 0 | |
| <5 aphthous lesion | 20 | 27.8 | 5 | 22.7 | 15 | 31.3 | 0 | 0 | |
| Normal | 28 | 38.9 | 7 | 31.8 | 19 | 39.6 | 2 | 100 | |
| Ileum | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 16 | 25.4 | 6 | 30.0 | 10 | 24.4 | 0 | 0 | .426 |
| Ulceration and stricture | 15 | 23.8 | 3 | 15.0 | 11 | 26.8 | 1 | 50.0 | |
| >5 aphthous lesion | 2 | 3.2 | 2 | 10.0 | 0 | 0 | 0 | 0 | |
| <5 aphthous lesion | 15 | 23.8 | 5 | 25.0 | 10 | 24.4 | 0 | 0 | |
| Normal | 15 | 23.8 | 4 | 20.0 | 10 | 24.4 | 1 | 50.0 | |
| Ulcerative colitis | |||||||||
| Distribution | |||||||||
| E1 | 16 | 13.3 | 2 | 6.3 | 14 | 16.7 | 0 | 0 | .057 |
| E2 | 31 | 25.8 | 4 | 12.5 | 26 | 31.0 | 1 | 25.0 | |
| E3 | 73 | 60.8 | 26 | 81.3 | 44 | 52.4 | 3 | 75.0 | |
| Colonoscopy Rektum | |||||||||
| Normal | 8 | 6.3 | 2 | 5.7 | 6 | 6.9 | 0 | 0 | .865 |
| Mild mucosal fragility | 10 | 7.9 | 2 | 5.7 | 8 | 9.2 | 0 | 0 | |
| Moderate mucosal fragility | 34 | 27.0 | 9 | 25.7 | 25 | 28.7 | 0 | 0 | |
| Hemorrhagic ulcers | 74 | 58.7 | 22 | 62.9 | 48 | 55.2 | 4 | 100 | |
| Sigmoid | |||||||||
| Normal | 8 | 6.6 | 1 | 3.0 | 7 | 8.2 | 0 | 0 | .715 |
| Mild mucosal fragility | 13 | 10.7 | 2 | 6.1 | 11 | 12.9 | 0 | 0 | |
| Moderate mucosal fragility | 37 | 30.3 | 9 | 27.3 | 27 | 31.8 | 1 | 25.0 | |
| Hemorrhagic ulcers | 64 | 52.5 | 21 | 63.6 | 40 | 47.1 | 3 | 75.0 | |
| Left colon | |||||||||
| Normal | 15 | 12.8 | 2 | 6.1 | 12 | 15.0 | 1 | 25.0 | .126 |
| Mild mucosal fragility | 13 | 11.1 | 3 | 9.1 | 10 | 12.5 | 0 | 0 | |
| Moderate mucosal fragility | 38 | 32.5 | 7 | 21.2 | 29 | 36.3 | 2 | 50.0 | |
| Hemorrhagic ulcers | 51 | 43.6 | 21 | 63.6 | 29 | 36.3 | 1 | 25.0 | |
| Right colon | |||||||||
| Normal | 31 | 30.4 | 5 | 16.7 | 25 | 36.8 | 1 | 25.0 | .094 |
| Mild mucosal fragility | 11 | 10.8 | 5 | 16.7 | 6 | 8.8 | 0 | 0 | |
| Moderate mucosal fragility | 29 | 28.4 | 6 | 20.0 | 21 | 30.9 | 2 | 50.0 | |
| Hemorrhagic ulcers | 31 | 30.4 | 14 | 46.7 | 16 | 23.5 | 1 | 25.0 | |
| Cecum | |||||||||
| Normal | 44 | 46.3 | 9 | 33.3 | 34 | 53.1 | 1 | 25.0 | .025 |
| Mild mucosal fragility | 15 | 15.8 | 2 | 7.4 | 12 | 18.8 | 1 | 25.0 | |
| Moderate mucosal fragility | 17 | 17.9 | 5 | 18.5 | 11 | 17.2 | 1 | 25.0 | |
| Hemorrhagic ulcers | 19 | 20.0 | 11 | 40.7 | 7 | 10.9 | 1 | 25.0 | |
| Ileum | |||||||||
| Normal | 61 | 80.3 | 14 | 73.7 | 44 | 83.0 | 3 | 75.0 | .300 |
| Mild mucosal fragility | 5 | 6.6 | 2 | 10.5 | 3 | 5.7 | 0 | 0 | |
| Moderate mucosal fragility | 4 | 5.3 | 0 | 0 | 3 | 5.7 | 1 | 25.0 | |
| Hemorrhagic ulcers | 6 | 7.9 | 3 | 15.8 | 3 | 5.7 | 0 | 0 | |
| Indeterminate colitis | |||||||||
| Sigmoid | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 1 | 7.7 | 1 | 33.3 | 0 | 0 | - | - | .335 |
| <5 aphthous lesion | 3 | 23.1 | 0 | 0 | 3 | 30 | - | - | |
| Normal | 9 | 69.2 | 2 | 66.7 | 7 | 70 | - | - | |
| Left colon | |||||||||
| Mucosal hyperemia, diffuse aphthous lesions | 1 | 7.7 | 1 | 33.3 | 0 | 0 | - | - | .231 |
| Normal | 12 | 92.3 | 2 | 66.7 | 10 | 100 | - | - | |
| Right colon | |||||||||
| >5 aphthous lesion | 1 | 7.7 | 1 | 33.3 | 0 | 0 | - | - | .231 |
| Normal | 12 | 92.3 | 2 | 66.7 | 10 | 100 | - | - | |
| Ileum | |||||||||
| <5 aphthous lesion | 2 | 15.4 | 0 | 0 | 2 | 20 | - | - | 1.000 |
| Normal | 11 | 84.6 | 3 | 100 | 8 | 80 | - | - | |
*The most common homozygous mutation M694V.
*The most common heterozygous mutation E148Q.
*The most common compound heterozygous mutation R202Q/M694 V.
IBD, inflammatory bowel disease; PCDAI, pediatric Crohn’s disease activity index; PUCAI, pediatric ulcerative colitis activity index.
P < .05 is statistically significant.