Antoniazzi Franco, Zamboni Giorgio, Lauriola Silvana, Donadi Luisa, Adami Silvano, Tatò Luciano
Pediatric Clinic and Rheumatological Rehabilitation, University of Verona, Verona, Italy.
J Pediatr. 2006 Aug;149(2):174-9. doi: 10.1016/j.jpeds.2006.03.013.
To evaluate prospectively the efficacy of bisphosphonate treatment in infants with severe forms of osteogenesis imperfecta (OI).
Of 10 children (6 females) with OI type III, 5 (group A) started treatment (2 mg/kg neridronate administered intravenously for 2 consecutive days, every 3 months) just after diagnosis at birth and 5 (group B) after 6 months. Ten untreated children, matched for sex, age, and clinical severity of OI, constituted a historical control group (group C). We measured weight, length, and number of fractures every 3 months and serum and urinary levels of calcium, phosphorus, creatinine, serum alkaline phosphatase, 25-hydroxyvitamin D, insulin-like growth factor I, parathyroid hormone, and osteocalcin, urinary type I collagen N-terminal telopeptide, and lateral radiography of vertebral column every 6 months.
Group A had better growth and a lower incidence of fractures than groups B and C in the first 6 months of treatment. In the second 6 months, both groups A and B had lower fracture rates than group C. After 12 months of therapy, osteocalcin and insulin-like growth factor I levels significantly increased only in group A. The urinary Ca/Cr ratio and N-terminal telopeptide/Cr ratio significantly declined only in treated patients. Vertebral body area and the structure of vertebral bodies improved in all treated patients, but especially in group A.
Cyclical neridronate treatment, started just after diagnosis at birth, had positive effects on growth and fracture rate.
前瞻性评估双膦酸盐治疗重症成骨不全症（OI）婴儿的疗效。
10例III型OI患儿（6例女性），其中5例（A组）在出生后确诊即开始治疗（每3个月静脉注射2mg/kg奈立膦酸，连续2天），5例（B组）在6个月后开始治疗。10例未接受治疗的患儿，根据性别、年龄和成骨不全症的临床严重程度进行匹配，构成历史对照组（C组）。我们每3个月测量体重、身长和骨折次数，每6个月测量血清和尿液中的钙、磷、肌酐、血清碱性磷酸酶、25-羟维生素D、胰岛素样生长因子I、甲状旁腺激素和骨钙素水平，尿液I型胶原N-末端肽水平，并对脊柱进行侧位X线摄影。
在治疗的前6个月，A组比B组和C组生长更好，骨折发生率更低。在第二个6个月，A组和B组的骨折率均低于C组。治疗12个月后，仅A组的骨钙素和胰岛素样生长因子I水平显著升高。仅在接受治疗的患者中，尿钙/肌酐比值和N-末端肽/肌酐比值显著下降。所有接受治疗的患者椎体面积和椎体结构均有改善，但A组尤为明显。
出生后确诊即开始周期性奈立膦酸治疗对生长和骨折率有积极影响。
