Cyclic Pamidronate Treatment in Two Korean Boys with Osteogenesis Imperfecta Type I Caused by COL1A1 Mutations - Case Report
Journal Title: Journal of Rare Disorders: Diagnosis & Therapy - Year 2017, Vol 3, Issue 2
Abstract
Osteogenesis Imperfecta (OI) is a type I collagen biosynthesis disorder caused by COL1A1 mutation, and its characteristic osteoporosis is the result of an increase in bone resorption. Bisphosphonate is a useful treatment for osteoporosis due to its anti-resorptive effect, which results from a reduction of osteoclastic activity. The authors confirmed the presence of two novel COL1A1 mutations in each of two Korean boys with typical OI type I and observed clinical and radiologic improvements from successful intravenous pamidronate therapy.
Authors and Affiliations
Jinkyung Kong, Ah Young oSe, Sung Yoon Cho, Dong-Kyu Jin, Heon-Seok Han
Keywords
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- EP ID EP304883
- DOI 10.21767/2380-7245.100056
- Views 50
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Cyclic Pamidronate Treatment in Two Korean Boys with Osteogenesis Imperfecta Type I Caused by COL1A1 Mutations - Case Report
Osteogenesis Imperfecta (OI) is a type I collagen biosynthesis disorder caused by COL1A1 mutation, and its characteristic osteoporosis is the result of an increase in bone resorption. Bisphosphonate is a useful treatment...
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