Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes

Calcified Tissue International
Roberto FranceschiM Zulf Mughal

Abstract

We report clinical findings, bone mineral density (BMD) and bone biopsy data in ten children with features of classic idiopathic juvenile osteoporosis (IJO). We also screened the patients for mutations in LRP5 and LRP6. We found low BMD in the lumbar spine, the hip and distal radius. In the spine and distal radius, the reduction in BMD was more marked in the trabecular compartment. Biopsy confirmed that the trabecular compartment is more severely involved with reduction in bone formation and increase in bone resorption. No mutations in LRP5 and LRP6 could be identified. IJO is likely to be a heterogeneous bone disorder, and next-generation genomic sequencing studies may help reveal causative genes.

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Citations

Apr 6, 2017·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·G BardaiF Rauch
Nov 17, 2020·Journal of the Endocrine Society·Manuela G M Rocha-BrazBruno Ferraz-de-Souza
Nov 24, 2020·Therapeutic Advances in Musculoskeletal Disease·Sophia D Sakka, Moira S Cheung

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