A Combined Approach to the Treatment of Adults with Osteogenesis Imperfecta

Jay R Shapiro*¹ and Paul D Sponseller²

Received: March 01, 2018;   Published: March 08, 2018

DOI: 10.32474/OSMOAJ.2018.01.000103

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Abstract

Osteogenesis Imperfecta (OI) is an inherited disorder of bone characterized by bone fragility and increased fracture risk affecting approximately 25,000 children and adults in the.com [1]. OI is caused by different gene mutations involving the synthesis of type I collagen alpha chains. Recently, mutations affecting post translational processing of type I collagen as well as several non-collagenous proteins (SP7. Osterix) involved in the Wnt signalling pathway have been recognized. To date, 19 genes are implicated in osteogenesis imperfecta phenotypes [2]. In individuals with OI fractures occur throughout the lifetime, more frequently at the extremes of age. Fractures in OI may first be recognized in ultrasound studies during pregnancy but fracture risk while increased in childhood, tends to decrease following puberty only to increase around age 50 in both women and men. Compared to adult osteoporosis, there have been no systematic studies evaluating optimal daily intake of calcium or vitamin D on BMD or fracture incidence in adults. Current use is highly variable in adults who: a) either do not regularly take supplements or, b) take calcium and vitamin D without, measurement of serum 25(OH)D levels or urinary calcium excretion. Both hypercalcuria and renal stones occur in adults with OI although the incidence is not reported. Furthermore there is little documentation of vitamin D levels in adults with OI.

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