Clinical and laboratory manifestations and treatment of children with TNFRSF1A gene variants

Table 2 Demographic and clinical characteristics of patients with gene variants TNFRSF1A and systemic juvenile idiopathic arthritis at disease onset and at the time of diagnosis of systemic juvenile idiopathic arthritis, n (%)/median (interquartile range)

Indicator	At onset				At time of sJIA diagnosis
	Total group (n = 66)	Patients with gene variants TNFRSF1A(n = 33)	Patients with sJIA (n = 33)	P value	Total group (n = 66)	Patients with gene variants TNFRSF1A(n = 33)	Patients with sJIA (n = 33)	P value
Boys	24 (36.4)	12 (36.4)	12 (36.4)	1.0	24 (36.4)	12 (36.4)	12 (36.4)	1.0
Girls	42 (63.6)	21 (63.6)	21 (63.6)	1.0	42 (63.6)	21 (63.6)	21 (63.6)	1.0
Age at the time of disease onset (years)	4.73 (2.0-7.4)	5.3 (1.6-7.6)	4.3 (2.6-6.9)	0.97	5.8 (3.39.3)	6.1 (3.49.0)	4.8 (3.27.7)	0.7
Duration of period between onset and verification of the diagnosis of rheumatic disease (years)					0.22 (0.1-0.6)	0.33 (0.2-0.8)	0.18 (0.1-0.4)	0.08
Burdened heredity for periodic febrile syndromes	1 (1.5)	1 (3)	0 (0)	1.0	1 (1.5)	1 (3)	0 (0)	1.0
History of appendectomy	2 (3)	2 (6.1)	0 (0)	0.49	4 (3)	4 (12.1)	0 (0)	0.11
Fever	65 (98.5)	32 (97)	33 (100)	1.0	61 (92.4)	33 (100)	28 (84.8)	0.07
Fever characteristics
Subfebrile (37.1 °C-38.0 °C)	5 (7.6)	5 (15.1)	0 (0)	0.053	4 (6.1)	1 (3)	3 (9.1)	0.48
Febrile (38.1 °C-39.0 °C)	52 (78.8)	25 (75.8)	27 (81.9)	0.76	51 (77.2)	28 (84.8)	23 (69.6)	0.24
Pyretic (39.1 °C-40 °C)	8 (12.1)	2 (6.1)	6 (18.1)	0.25	6 (9.1)	4 (12.1)	2 (6.1)	0.43
Number of attacks
Once a month	1 (1.5)	1 (3)	0 (0)	1.0	0 (0)	0 (0)	0 (0)	1.0
2 times a month	4 (6.1)	4 (12.1)	0 (0)	0.11	2 (3)	2 (6.1)	0 (0)	0.49
3 times a month	4 (6.1)	4 (12.1)	0 (0)	0.11	23 (34.8)	23 (69.7)	0 (0)	0.0001
> 4 times a month	7 (10.7)	7 (21.2)	0 (0)	0.01	5 (7.6)	5 (15.1)	0 (0)	0.053
Continuous fever	49 (74.2)	16 (48.5)	33 (100)	0.0001	36 (54.6)	3 (9.1)	28 (100)	0.0001
Duration of fever
1-3 days	1 (1.5)	1 (3)	0	1.0	0 (0)	0 (0)	0 (0)	1.0
5-6 days	15 (22.7)	15 (45.5)	0	0.0001	18 (27.2)	18 (54.5)	0 (0)	0.0001
> 7 days	49 (74.2)	16 (48.5)	33 (100)	0.0001	48 (72.8)	15 (45.5)	28 (100)	0.002
Rash	55 (83.3)	22 (66.7)	33 (100)	0.0001	52 (78.8)	19 (57.6)	29 (87.8)	0.01
Rash characteristics
Maculopapular	43 (65.1)	10 (30.3)	33 (100)	0.0001	41 (62.1)	8 (24.2)	29 (87.8)	0.0001
Small-spotted	7 (10.6)	7 (21.2)	0 (0)	0.01	6 (9.1)	6 (18.1)	0 (0)	0.02
Large-spotted	4 (6.1)	4 (12.1)	0 (0)	0.11	4 (6.1)	4 (12.1)	0 (0)	0.11
Vesicular	1 (1.5)	1 (3)	0 (0)	1.0	1 (1.5)	1 (3)	0 (0)	1.0
Joint syndrome	43 (65.1)	26 (78.8)	17 (51.5)	0.03	47 (71.2)	27 (81.8)	20 (60.6)	0.1
Characteristics of joint syndrome
Oligoarthritis	29 (44)	18 (54.5)	11 (33.3)	0.21	33 (50)	18 (54.5)	15 (45.5)	0.47
Polyarthritis	14 (21.2)	8 (24.2)	6 (18.1)	0.76	14 (21.2)	9 (27.2)	5 (15.1)	0.36
Hepatomegaly	40 (60.6)	21 (63.6)	19 (57.6)	0.8	54 (81.8)	23 (69.7)	31 (94)	0.025
Lymphadenopathy	30 (45.5)	17 (51.5)	13 (39.4)	0.45	37 (56)	18 (54.5)	19 (57.6)	1.0
Splenomegaly	28 (42.4)	14 (42.4)	14 (42.4)	1.0	37 (56)	16 (48.5)	21 (63.6)	0.32
Nervous system lesion	26 (39.4)	18 (54.5)	8 (24.2)	0.02	18 (27.2)	14 (42.4)	4 (12.1)	0.01
Characteristics of neurological symptoms
Headache	22 (33.3)	14 (42.4)	8 (24.2)	0.19	15 (22.7)	11 (33.3)	4 (12.1)	0.07
Aseptic meningitis	1 (1.5)	1 (3)	0 (0)	1.0	0 (0)	0 (0)	0 (0)	1.0
Hydrocephalus	1 (1.5)	1 (3)	0 (0)	1.0	1 (1.5)	1 (3)	0 (0)	1.0
Delay in psycho-speech development	2 (3)	2 (6.1)	0 (0)	0.49	2 (3)	2 (6.1)	0 (0)	0.49
Hearing loss	1 (1.5)	1 (3)	0 (0)	1.0	3 (4.5)	3 (9.1)	0 (0)	0.23
Myalgia	17 (25.8)	14 (42.4)	3 (9.1)	0.004	18 (27.2)	17 (51.5)	1 (3)	0.0001
Pericarditis	10 (15.1)	5 (15.1)	5 (15.1)	1.0	12 (18.2)	7 (21.1)	5 (15.1)	0.75
Pleurisy	3 (4.5)	2 (6)	1 (3)	1.0	4 (6.1)	2 (6.1)	2 (6.1)	1.0
Abdominal pain	8 (12.1)	6 (18.1)	2 (6.1)	0.25	10 (15.1)	10 (30.3)	0 (0)	0.001
Chest pain	4 (6)	4 (12.1)	0	0.11	4 (6.1)	4 (12.1)	0 (0)	0.11
Eye afflictions	5 (7.5)	5 (15.1)	0 (0)	0.053	8 (12.1)	8 (24.2)	0 (0)	0.004
Characteristics of eye damage
Unilateral uveitis	1 (1.5)	1 (3)	0 (0)	1.0	5 (7.5)	5 (15.1)	0 (0)	0.053
Bilateral uveitis	3 (4.5)	3 (9.1)	0 (0)	0.23	1 (1.5)	1 (3)	0 (0)	1.0
Retinal angiopathy	1 (1.5)	1 (3)	0 (0)	1.0	2 (3)	2 (6.1)	0 (0)	0.49
Periorbital edema	3 (4.5)	3 (9.1)	0 (0)	0.23	4 (6.1)	4 (12.1)	0 (0)	0.11
Aphthous stomatitis	2 (3)	2 (6.1)	0 (0)	0.49	2 (3)	2 (6.1)	0 (0)	0.49
Clinical manifestations of gastrointestinal tract lesions	11 (16.7)	9 (27.2)	2 (6)	0.04	8 (12.1)	8 (24.2)	0 (0)	0.004
Clinical manifestations of gastrointestinal tract lesions
Liquid stool	5 (7.5)	4 (12.1)	1 (3)	0.35	3 (4.5)	3 (9.1)	0 (0)	0.23
Liquid stool with an admixture of blood	2 (3)	2 (6.1)	0 (0)	0.49	2 (3)	2 (6.1)	0 (0)	0.49
Vomiting	3 (4.5)	2 (6.1)	1 (3)	1.0	2 (3)	2 (6.1)	0 (0)	0.49
Vomiting combined with liquid stool	1 (1.5)	1 (3)	0 (0)	1.0	1 (1.5)	1 (3)	0 (0)	1.0
Changes in gastrointestinal endoscopic examination data					36 (54.5)	20 (60.6)	16 (48.5)	0.45
Changes in gastrointestinal endoscopic examination data
Gastritis	17 (25.8)	9 (27.2)	8 (24.2)	1.0	3 (4.5)	3 (9.1)	0 (0)	0.49
Erosive gastritis					1 (1.5)	1 (3)	0 (0)	1.0
Erosive esophagitis + duodenitis					1 (1.5)	0 (0)	1 (3)	1.0
Erosive esophagitis + bulbitis					1 (1.5)	0 (0)	1 (3)	1.0
Erosive proctitis + erosive gastritis + duodenitis + jejunit					1 (1.5)	1 (3)	0 (0)	1.0
Erosive ileitis + erosive gastritis + duodenitis					1 (1.5)	1 (3)	0 (0)	1.0
Erosive sigmoiditis + gastritis + jejunitis					1 (1.5)	1 (3)	0 (0)	1.0
Gastritis + bulbitis	1 (1.5)	1 (3)	0 (0)	1.0	1 (1.5)	0 (0)	1 (3)	1.0
Gastritis + duodenitis + jejunitis					3 (4.5)	3 (9.1)	0 (0)	0.23
Gastritis + bulbitis + duodenitis					4 (6.1)	0 (0)	4 (12.1)	0.11
Gastritis + duodenitis					11 (16.7)	3 (9.1)	8 (24.2)	0.185
Bulbitis + duodenitis	1 (1.5)	1 (3)	0 (0)	1.0	1 (1.5)	1 (3)	0 (0)	1.0
Bulbitis					2 (3)	2 (6.1)	0 (0)	0.49
Duodenitis	2 (3)	1 (3)	1 (3)	1.0	2 (3)	1 (3)	1 (3)	1.0
Sigmoiditis					3 (4.5)	3 (9.1)	0 (0)	0.23
MAS	8 (12.1)	1 (3)	7 (21.2)	0.052	15 (22.7)	7 (21.2)	8 (24.2)	1.0
Amyloidosis	0 (0)	0 (0)	0 (0)	1.0	1 (1.5)	1 (3)	0 (0)	1.0

MAS: Macrophage activation syndrome; sJIA: Systemic juvenile idiopathic arthritis.