Table 1 (abstract P2104). Main features of three patients with multicentric carpotarsal osteolysis syndrome
From: 10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
| Â | Patient A | Patient B | Patient C |
|---|---|---|---|
Age (years); gender; country of origin | 14; M; Croatia | 16; M; Italy | 11; F; Russia |
MAFB mutation | c.184A>G, p.Thr62Ala | c.172A>G, p.Thr58Ala | c.208T>C, p.Ser70Pro |
Bone lesions onset (age; years) | 5 | 8 | 8 |
Presentation | Bilateral | Monolateral | Monolateral |
Site | Tarsus | Carpus | Carpus |
Current state (except carpotarsal joints) | Elbows and knees contractures | Knees contractures | None |
Nephropathy onset (age; years) | 3 | 9 | None |
Current state | Proteinuria (720mg/24h) | Proteinuria (1.3g/24h) | Normal kidney function |
Serum C1q concentration | 174 mg/l | 312 mg/l | 176 mg/l |