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©The Author(s) 2016.
World J Gastroenterol. Jun 28, 2016; 22(24): 5578-5588
Published online Jun 28, 2016. doi: 10.3748/wjg.v22.i24.5578
Published online Jun 28, 2016. doi: 10.3748/wjg.v22.i24.5578
Table 1 Genotypes of 13 patients diagnosed with very early-onset inflammatory bowel disease
Patient | Gene | Variation | Homo/Heterozygote | Function defect |
1 | IL-10RA | p.R101W | Homozygote | Yes |
2 | IL-10RA | p.R101W | Compound heterozygote | Yes |
p.V100G (novel mutation) | Pathogenic supporting by Polyphen 2 and SIFT | |||
3 | IL-10RA | p.R101W | Compound heterozygote | Yes |
p.Y64C (novel mutation) | Pathogenic supporting by Polyphen 2 and SIFT | |||
4 | IL-10RA | p.R117H (rs199989396) | Heterozygote | Yes |
NOD2 | p.R703C (rs5743277) | Heterozygote | Susceptibility to CD recorded in HGMD | |
FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
5 | IL-10RB | p.K47E (rs2834167) | Homozygote | SNP in a VEO-UC child reported by Galatola et al[29] |
p.E141K (rs387907326) | Heterozygote | Pathogenic supporting by Polyphen 2 and SIFT | ||
IL-10RA | p.P115P (rs22280554) | Homozygote | Susceptibility to VEO-IBD reported by Moran et al[30] | |
p.I224V (rs22280555) | Homozygote | |||
FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
6 | IL-10RA | p.P115P (rs22280554) | Homozygote | Susceptibility to VEO-IBD reported by Moran et al[30] |
p.I224V (rs22280555) | Homozygote | |||
FUT2 | p.I140F (rs1047781) | Homozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
7 | IL-10RA | p.P115P (rs22280554) | Homozygote | Susceptibility to VEO-IBD reported by Moran et al[30] |
p.I224V (rs22280555) | Homozygote | |||
FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
8 | IL-10RB | p.K47E (rs2834167) | Homozygote | SNP in a VEO-UC child reported by Galatola et al[29] |
FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] | |
9 | IL-10RB | p.K47E (rs2834167) | Heterozygote | SNP in a VEO-UC child reported by Galatola et al[29] |
FUT2 | p.I140F (rs1047781) | Heterozygote | Susceptibility to CD in Chinese population reported by Hu et al[31] |
Table 2 Clinical manifestations of very early-onset inflammatory bowel disease
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 | Patient 13 | |
Gender | F | M | M | M | M | M | M | M | M | M | M | F | F |
Age of onset (mo) | 8 | 1 | 0.3 | 0.3 | 4 | 0.2 | 9 | 2 | 0.5 | 3 | 0.7 | 10 | 36 |
Height percentile | 19% | 1% | 3% | 1% | 1% | 1% | 52% | 1% | 15% | 1% | 19% | 16% | 20% |
Weight percentile | 1% | 1% | 1% | 1% | 1% | 20% | 55% | 13% | 8% | 15% | 16% | 60% | 33% |
Diarrhea (times/d) | > 10 | 7-8 | > 10 | 10 | 5-10 | 5-6 | 7-8 | 2-4 | 7-8 | No diarrhea | 7-8 | No diarrhea | 2-3 |
Bloody stool | + | + | + | + | + | - | + | + | + | - | + | + | + |
Infection | Sepsis | Pneumonia | No | Pneumonia, Clostridium difficile infection | Sepsis, oral candidiasis, fungemia, Clostridium difficile infection | Recurrent respiratory infection | No | No | No | Repeated fever of unknow origin | Oral candidiasis, gingivitis | No | No |
Perianal lesion | Fistulae | No | No | Excrescence | Fistulae, abscess, excrescence | Fistulae, ulcer | No | No | No | No | Fistulae, abscess, excrescence | No | No |
Clinical diagnosis | CD | CD | CD | CD | CD | CD | CD | CD | UC | CD | CD | UC | UC |
Medication | GC, 6-MP | IFX, THD | GC, THD | GC, IFX1, THD | GC, IFX, THD | GC, IFX1 | GC, IFX, MES | GC, IFX1, THD, 6-MP | GC, MES | GC, 6-MP, THD | GC, IFX, THD, 6-MP | MES | GC, MES |
Clinical status | NR | PR | Died at 2 yr because of severe sepsis | PR | Died at 3 yr because of intestinal failure | NR | CR | PR | CR | CR | PR | CR | CR |
Table 3 Comparison of features between patients with mutations and polymorphisms
Group 1 | Group 2 | |
Size of sample | 5 | 8 |
Age of onset (mo) | 2.7 | 7.7 |
Height percentile | 5.0% | 15.6% |
Weight percentilea | 1.0% | 27.5% |
WBC (× 10-9) | 15.2 | 16.3 |
Hemoglobin (g/L)a | 87.4 | 108.5 |
Platelets (× 10-9) | 538.4 | 424.0 |
C reactive protein (mg/L) | 60.7 | 35.9 |
ESR (mm/H) | 32.2 | 16.6 |
TNFα (pg/mL) | 44.5 | 51.6 |
Diagnosis of CD | 100.0% | 62.5% |
Recurrent infection | 80.0% | 25.0% |
Perianal disease | 60.0% | 25.0% |
- Citation: Xiao Y, Wang XQ, Yu Y, Guo Y, Xu X, Gong L, Zhou T, Li XQ, Xu CD. Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease. World J Gastroenterol 2016; 22(24): 5578-5588
- URL: https://www.wjgnet.com/1007-9327/full/v22/i24/5578.htm
- DOI: https://dx.doi.org/10.3748/wjg.v22.i24.5578