Bone Abstracts

Understanding normal patterns of bone growth is important for optimising bone health in children and reducing osteoporotic fractures in later life. Recently published guidelines for bone assessment in children state that to predict fractures a technique should identify children at risk of clinically significant fractures and that dual-energy absorptiometry (DXA) is the preferred method of assessment. Despite these guidelines there is still inconsistency and lack of consensus r...

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...

Introduction: Hypophosphatasia (HPP) characterized by reduced mineralization occurs from mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. Individuals harbouring bi-allelic mutations are generally reported to be severely affected. We report the findings of in vitro functional studies following site-directed mutagenesis in bi-allelic mutations causing extreme clinical phenotypes; severe perinatal and asymptomatic HPP.Objectiv...

Objectives: In XLH, musculoskeletal outcomes of current treatment with oral phosphate (Pi)/active vitamin D are suboptimal for many patients. In a Phase 2, open-label study, we tested the hypothesis that KRN23 improves rickets and functional outcomes in XLH children.Methods: Fifty-two children with XLH (ages 5–12 years at baseline) received KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). At study entry, most participants had received oral Pi/a...

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

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...