Bone Abstracts

Rickets and osteomalacia are caused by calcium deprivation, meaning the body has insufficient calcium supply and the resulting secondary hyperparathyroidism leads to excessive bone resorption and, via renal phosphate wasting, also to hypomineralization of bone and growth plates. The two main environmental causes of calcium deprivation are dietary calcium deficiency and solar vitamin D deficiency. The environmental nature of rickets and osteomalacia is undisputed. On a global s...

Vertebral fracture assessment (VFA) by DXA is an accepted tool in adults. However, its use in children has not been validated. The aim of this study was to validate VFA using iDXA against spinal radiographic assessment (RA) for the identification of vertebral fractures in children.Spine radiographs and VFA (L5–T2) by GE-iDXA were acquired on the same day in 80 children. Forty children were considered high-risk for fracture as their metabolic bone sp...

Intravenous (IV) Pamidronate (PAM) has been used in the treatment of Osteogenesis Imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent IV Zoledronic acid (ZOL).Objectives: To determine the clinical efficacy of IV PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Methods: A retrospec...

Introduction: Since the definition of osteoporosis in children changed following the revised ISCD guidelines of 2013, the presence of vertebral fractures has become more clinically important, in particular since vertebral fractures may occur despite apparently normal bone density (www.iscd.org). Although the detection of vertebral fractures in children is still largely dependent on lateral spine x-rays, the introduction of new higher resolutio...

Objectives: Hajdu–Cheney syndrome (HCS) is an ultra-rare, genetic bone disease caused by mutations in the NOTCH2 gene. HCS is characterised by dysmorphic features, acroosteolysis, and high turnover osteoporosis. Sparse evidence in adult HCS suggests increased BMD and reduced bone turnover during bisphosphonate (BP) therapy. A single paediatric case report indicated beneficial effects of i.v. pamidronate therapy. We present four paediatric patients with HCS, their...

Objectives: The SNAP study is a prospective fracture study of children with chronic inflammatory and/or disabling conditions. The overall study aim is to assess causal links between body-size adjusted bone density and low trauma fracture.Methods: 330 children aged 5–18 years were recruited from seven disease groups namely; acute lymphoblastic leukaemia (ALL), rheumatological disease, inflammatory bowel disease, cystic fibrosis, coeliac disease, Duch...

Objectives: Current guidelines recommend annual assessments of bone densitometry in boys with Duchenne muscular dystrophy (DMD). However, this recommendation is based on the assumption that bone density is a predictor of fractures in this patient group. The aim of this study was to evaluate the relationships between long-term changes in bone density, corticosteroid exposure and mobility with vertebral and long bone fractures.Methods: Twenty-four DMD boys...

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

Background: DMD is a progressive neuromuscular disease often treated with oral glucocorticoids (GC) to prolong ambulation and maintain cardiovascular function. However, the osteotoxic GC effects often result in a skeleton prone to fractures. DMD boys presenting with fractures are treated with bisphosphonates (BP) but evidence of beneficial effects is limited. The aim of this work was to review the use of intravenous BPs in a group of severely affected boys with fractures.<...