Journal of Rare Disorders: Diagnosis & Therapy

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 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.

Author(s):

Jinkyung Kong, Ah Young Seo, Sung Yoon Cho, Dong-Kyu Jin and Heon-Seok Han

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