Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.
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.


CONCLUSIONS
Patients with neonatal OI can have a favorable outcome when treated with cyclic pamidronate infusions early in life.
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Chia-Hsuan
CH
Lin
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.
Yin-Hsiu
YH
Chien
Department of Radiology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Shinn-Forng
SF
Peng
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Wen-Yu
WY
Tsai
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Yi-Ching
YC
Tung
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Cheng-Ting
CT
Lee
Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taiwan.
Chun-Ching
CC
Chien
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.
Wuh-Liang
WL
Hwu
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. Electronic address: ncleentu@ntu.edu.tw.
Ni-Chung
NC
Lee
D015519:Bone Density / Q000187:drug effects; D002648:Child; D002675:Child, Preschool; D004164:Diphosphonates / Q000008:administration & dosage* / Q000009:adverse effects; D004334:Drug Administration Schedule; D005260:Female; D050723:Fractures, Bone / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D006996:Hypocalcemia / Q000139:chemically induced; D007223:Infant; D007262:Infusions, Intravenous; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000188:drug therapy*; D000077268:Pamidronate
D004164:Diphosphonates; D000077268:Pamidronate
bisphosphonate; bone mineral density; neonate; osteogenesis imperfecta