环磷酰胺输注治疗新生儿期成骨不全症。
Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.
作者信息
Lin Chia-Hsuan, Chien Yin-Hsiu, Peng Shinn-Forng, Tsai Wen-Yu, Tung Yi-Ching, Lee Cheng-Ting, Chien Chun-Ching, Hwu Wuh-Liang, Lee Ni-Chung
机构信息
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan; Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
出版信息
Pediatr Neonatol. 2014 Aug;55(4):306-11. doi: 10.1016/j.pedneo.2013.12.001. Epub 2014 Jan 31.
BACKGROUND
Patients with severe osteogenesis imperfecta (OI; MIM number 259420) suffer from low bone mass, fractures, and bone pain since birth, and have poor prognosis. This study assessed the outcome of patients with severe OI who were treated with cyclic pamidronate prior to the age of 1 year.
METHODS
The six patients, who had bone fractures either in utero or in their 1st month of life, were treated with cyclic pamidronate from a mean age of 2.8 months.
RESULTS
All the patients tolerated the infusion, except for having transient hypocalcemia at the first infusion. Decreases in irritability and improvements in feeding were observed 2-3 months after the first infusion. All patients showed a rapid increase in bone mineral density over the first 2 years. Fractures occurred at a rate of 0.6/year. At a mean age of 6.4 years, five patients with no interruption in treatment had normal ambulatory function, but they were short in height.
CONCLUSION
Patients with neonatal OI can have a favorable outcome when treated with cyclic pamidronate infusions early in life.
背景
重度成骨不全症（OI；MIM编号259420）患者自出生起就患有低骨量、骨折和骨痛，预后较差。本研究评估了1岁前接受环磷酰胺治疗的重度OI患者的治疗结果。
方法
6例在子宫内或出生后第1个月发生骨折的患者，平均从2.8个月开始接受环磷酰胺治疗。
结果
除首次输注时出现短暂低钙血症外，所有患者均耐受输注。首次输注后2 - 3个月，观察到易怒症状减轻，喂养情况改善。所有患者在最初2年内骨密度迅速增加。骨折发生率为0.6次/年。平均年龄6.4岁时，5例未中断治疗的患者行走功能正常，但身材矮小。
结论
新生儿OI患者在生命早期接受环磷酰胺输注治疗可获得良好预后。
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