Table 2 Clinical features, treatment regimens and response to bisphosphonate treatment - previously published cases
Case [Ref] | Gender - Age (yr)a | NOTCH2 mutation | Fracture Details | Treatment Regimen | Scan interval (years) | Lumbar spine z-score | Acro-osteolysis | ||
|---|---|---|---|---|---|---|---|---|---|
Before | After | Before | After | ||||||
8. [5] | M 2 | c.6909dup p.I2304HfsX9 | Metatarsals | Pamidronate 3 mg/kg/3 m | 5 | −4.1 | − 0.7 | Hands and feet | No response |
9.b [12] | M.6½ | p.Val2221Glufs* | Long bones | Pamidronate 1 mg/kg/3 m - 1 yr Alendronate 35–70 mg - 5½ yr | 6 | −1.9 | + 0.1 | Hands and feet | No response |
M.17½ | Zoledronate 5 mg × 1 age 17½ | 2½ | −2.1 | −1.7 | Hands and feet | Not recorded | |||
10 [15]. | F.10 | Clinical | Vertebral, metatarsal, metacarpal | Pamidronate 4 mg/kg/3 m | 2 | −3.4 | −0.7 | Hands and feet | Not recorded |
11 [12]. | M.10½ | Clinical | Vertebral, long bones | Alendronate 35–70 mg/wk | 4 | − 0.5 | + 2.8 | Hands and feet | Slowed progression |
12 [12]. | F.15 | p.Leu2301* | Vertebral, long bones | Zoledronate 50 μg/kg/6 m | 3 | −3.4 | −2.4 | Hands and feet | No response |
13 [12]. | M.15½ | pGln2263* | Vertebral | Zoledronate 50 μg/kg/6 m | 1½ | −0.8 | − 0.7 | Hands and feet | Not recorded |
14 [14]. | F 41 | c.6854delA p.Q2285RfsX9 | None | Zoledronate 5 mg/yr | 3 | −2.5 | −2.6 | Hands | Worse |
15 [13]. | F 57 | Clinical | Vertebral compression | Alendronate 10 mg/day | 4 | −3.6 | −2.7 | Hands | No response |