Table 4.

The comparison of homozygous M694Vwith the other mutations

	Homozygous M694V		Heterozygous M694V		Compound Heterozygous		Other Homozygous		P
	n = 36		n = 12		n = 7		n = 26
n	%	n	%	n	%	n	%
Age (years)
≤ 5	10	27.8	4	33.3	2	28.6	3	11.5	.281
>5	26	72.2	8	66.7	5	71.4	23	88.5
Gender
Male	22	61.1	7	58.3	5	71.4	13	50.0	.726
Female	14	38.9	5	41.7	2	28.6	13	50.0
Consanguinity	7	21.2	1	8.3	1	14.3	3	12.0	.769
Family history of IBD except parents	4	11.8	1	8.3	0	0	1	4.5	.918
Perianal disease	36	100	12	100	2	28.6	26	100	<.001
Abse	2	5.6	1	8.3	0	0,0	0	0	.543
Fissure	4	11.1	1	8.3	1	14.3	0	0	.217
Fistula	0	0	0	0	0	0	0	0
Skin Tag	0	0	0	0	0	0	0	0
Diagnosis
Ulcerative colitis	15	41.7	3	25.0	4	57.1	17	65.4	.102
Crohn disease	15	41.7	7	58.3	3	42.9	9	34,6
Indeterminate colitis	6	16.7	2	16.7	0	0	0	0
PUCAI	39.5 ± 18.2		55.0 ± 7.1		67.5 ± 16.6				.064
PCDAI	40.3 ± 11.7		27.5 ± 11.9		40.3 ± 30.2				.088
Crohn Disease
Distribution
Localized	10	6.7	6	85.7	1	33.3	7	77.8	.392
Disseminated	5	33.3	1	14.3	2	66.7	2	22.2
Colonoscopy Rectum
Mucosal hyperemia, diffuse aphthous lesions	3	21.4	1	14.3	0	0	1	11.1	.976
Ulceration and stricture	0	0	1	14.3	0	0	0	0
Fistula	0	0	0	0	0	0	0	0
>5 aphthous lesion	2	14.3	0	0	0	0	1	11.1
<5 aphthous lesion	2	14.3	1	14.3	0	0	1	11.1
Normal	7	50.0	4	57.1	2	100	6	66.7
Sigmoid
Mucosal hyperemia, diffuse aphthous lesions	3	21.4	0	0	0	0	0	0	.131
Fistula	0	0	0	0	0	0	0	0
>5 aphthous lesion	0	0	1	14.3	0	0	2	22.2
<5 aphthous lesion	4	28.6	3	42.9	0	0	0	0
Normal	7	50.0	3	42.9	2	100	7	77.8
Leftcolon
Mucosal hyperemia, diffuse aphthous lesions	1	7.7	0	0	0	0	0	0	.726
Ulceration and stricture	0	0	0	0	0	0	0	0
>5 aphthous lesion	1	7.7	0	0	0	0	1	11.1
<5 aphthous lesion	2	15.4	3	50.0	0	0	1	11.1
Normal	9	69.2	3	50.0	2	100	7	77.8
Right colon
Mucosal hyperemia, diffuse aphthous lesions	1	7.7	0	0	0	0	1	11.1	.834
Fistula	1	7.7	0	0	0	0	0	0
>5 aphthous lesion	3	23.1	0	0	0	0	1	11.1
<5 aphthous lesion	2	15.4	3	50.0	0	0	1	11.1
Normal	6	46.2	3	50.0	2	100	6	66.7
Cecum
Mucosal hyperemia, diffuse aphthous lesions	4	30.8	0	0	0	0	2	22.2	.432
Ulceration and stricture	0	0	0	0	0	0	1	11.1
>5 aphthous lesion	2	15.4	0	0	0	0	1	11.1
<5 aphthous lesion	2	15.4	4	66.7	0	0	3	33.3
Normal	5	38.5	2	33.3	2	100	2	22.2
Ileum
Mucosal hyperemia, diffuse aphthous lesions	4	36.4	1	16.7	0	0	2	22.2	.864
Ulceration and stricture	1	9.1	1	16.7	1	50.0	2	22.2
>5 aphthous lesion	2	18.2	0	0	0	0	0	0
<5 aphthous lesion	2	18.2	3	50.0	0	0	3	33.3
Normal	2	18.2	1	16.7	1	50.0	2	22.2
Ulcerative colitis
Distribution
E1	1	6.7	0	0	0	0	1	5.9	.739
E2	3	20.0	0	0	1	25.0	1	5.9
E3	11	73.3	3	100	3	75.0	15	88.2
Colonoscopy Rektum
Normal	0	0	1	33.3	0	0	2	11.8	.398
Mild mucosal fragility	2	11.1	0	0	0	0	0	0
Moderate mucosal fragility	5	27.8	0	0	0	0	4	23.5
Hemorrhagic ulcers	11	61.1	2	66.7	4	100	11	64.7
Sigmoid
Normal	1	5.9	0	0	0	0	0	0	.570
Mild mucosal fragility	2	11.8	1	33.3	0	0	0	0
Moderate mucosal fragility	5	29.4	0	0	1	25.0	4	25.0
Hemorrhagic ulcers	9	52.9	2	66.7	3	75.0	12	75.0
Left colon
Normal	1	5.9	0	0	1	25.0	1	6.3	.251
Mild mucosal fragility	3	17.6	1	33.3	0	0	0	0
Moderate mucosal fragility	4	23.5	0	0	2	50.0	3	18.8
Hemorrhagic ulcers	9	52.9	2	66.7	1	25.0	12	75.0
Right colon
Normal	3	20.0	0	0	1	25.0	2	13.3	.316
Mild mucosal fragility	4	26.7	1	33.3	0	0	1	6.7
Moderate mucosal fragility	4	26.7	0	0	2	50.0	2	13.3
Hemorrhagic ulcers	4	26.7	2	66.7	1	25.0	10	66.7
Cecum
Normal	5	35.7	1	33.3	1	25.0	4	30.8	.707
Mild mucosal fragility	2	14.3	1	33.3	1	25.0	0	0
Moderate mucosal fragility	3	21.4	0	0	1	25.0	2	15.4
Hemorrhagic ulcers	4	28.6	1	33.3	1	25.0	7	53.8
Ileum
Normal	7	70.0	1	33.3	3	75.0	7	77.8	.527
Mild mucosal fragility	1	10.0	1	33.3	0	0	1	11.1
Moderate mucosal fragility	0	0	0	0	1	25.0	0	0
Hemorrhagic ulcers	2	20.0	1	33.3	0	0	1	11.1
Indeterminate colitis
Sigmoid
Mucosal hyperemia, diffuse aphthous lesions	1	33.3	0	0,0					1.000
<5 aphthous lesion
Normal	2	66.7	2	100
Left colon
Mucosal hyperemia, diffuse aphthous lesions	1	33.3	0	0					1.000
Normal	2	66.7	2	100
Right colon
>5 aphthous lesion	1	33.3	0	0					1.000
Normal	2	66.7	2	100
Ileum
<5 aphthous lesion	0	0	0	0
Normal	3	100	2	100