Characteristics | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 |
---|---|---|---|---|---|---|
Age, yrs | 20.8 | 15.4 | 17.9 | 6.0 | 5.3 | 12.5 |
Sex | M | M | M | F | F | F |
Age at disease onset, yrs | 2.7 | 0.5 | 0.6 | 3.4 | 4.5 | 0.6 |
Disease duration, yrs | 18.1 | 14.9 | 17.3 | 2.6 | 0.8 | 11.9 |
NOD2 mutations | R334Q | R334Q | R334Q | R587C | R334Q | R587C and R471C |
Medication | ||||||
MTX, mg/week* | 7.5 | 7.5 | 10 | 8 | 8 | 7.5 |
PSL, mg/day* | 15 | 9 | 1 | Not used | Not used | 7.5 |
Clinical features | ||||||
Arthritis | ||||||
No. per site | 2 | 2 | 12 | 33 | 15 | 40 |
Affected joint(s) | W | W | W, MCP, PIP | H, K, A, MTP, E, W, MCP, PIP | K, A, MTP, E, W, MCP, PIP | H, K, A, MTP, E, W, MCP, PIP |
Uveitis | ||||||
Age at onset, yrs | 5 | 2 | 4 | — | — | 2 |
Main findings | Bi. IC, Rt. Cat. | Bi. IC, VO, RV, PE | Inactive | Bi. IC, VO, RV, PE | ||
Rash | EN | EN | None | None | None | EN |
Lesion and area affected | Lower leg | Lower leg | Lower leg | |||
Laboratory findings | ||||||
ESR, mm/h | 11 | 4 | 4 | 54 | 45 | 37 |
CRP, g/dl | 3.9 | 9.9 | 5.2 | 25.6 | 16.4 | 17.6 |
MMP-3, ng/ml | 278 | 123 | 129 | 654 | 322 | 297 |
↵* MTX or PSL was given orally; cases 4 and 5 had never received systemic corticosteroids previously. MTX: methotrexate; PSL: prednisolone; ESR: erythrocyte sedimentation rate; CRP: C-reactive protein; MMP-3: matrix metalloproteinase 3; W: wrist; MCP: metacarpophalangeal; PIP: proximal interphalangeal; H: hip; K: knee; A: ankle; MTP: metatarsophalangeal; E: elbow; Bi.: bilateral; IC: iridocyclitis; Rt.: right; Cat.: cataract; VO: vitreous opacity; RV: retinal vasculitis; PE: papilledema; EN: erythema nodosum.