Bone Abstracts

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

Objective: Biochemical assessment of teenage patients with adolescent idiopathic scoliosis (AIS).Methods: Blood sampling from 120 patients with AIS aged 12–17 years. The patients all had significant scoliosis and blood samples were taken a few days or weeks before they underwent scoliosis surgery. Serum 25-hydroxy-vitamin D (25-OHD), calcium, phosphate, alkaline phosphatase and parathyroid hormone (PTH) were measured. Patients with a 25-OHD level be...

Introduction: Kidney dysfunction is common in the elderly and has been proven to have an association with increased hip fracture incidence. Acute dysfunction may also delay surgery. Serum creatinine, a product of metabolised muscle tissue is a marker used to determine changes in renal function.Objective: To assess the renal function of hip fracture patients throughout their hospital stay using serum creatinine as the marker of renal function.<p class...

Background: Neonatal hypocalcemia is defined as S-Ca <2 mmol/l in fullterm newborns and <1.75 mmol/l in preterm newborns. Neonatal hypocalcemia is either early onset (<3 days of age) or late onset (>3 days of age). Newborns with hypocalcemia are often asymptomatic, but mays present with hypotonia, apnea, poor feeding, jitteriness, seizures, cardiac failure. Signs of hypocalcemia rarely occur unless S-Ca drops below 1.75 mmol/l.Case presen...

Background: A 15 year old boy with antenatally diagnosed osteogenesis imperfecta (OI) was reviewed following concerns about poor linear growth, lack of pubertal development and persistent deciduous teeth. He had a history of crush fractures of L1–L2 and previous intra-medullary rodding of his right femur and had been on oral bisphosphonates (Risedronate 70 mg once weekly). He was significantly short (height SDS −4.9), substantially below his genetic potential (targe...

The relationship between vitamin D status and lean mass accretion in young children is not well understood.Objective: To explore vitamin D status in relation to lean mass outcomes over 12 mo in children 2–8 years.Methods: This was a secondary analysis of trial data (clinicaltrials.gov: NCT02097160, NCT02387892) in Montreal, Canada. Children consumed their normal vitamin D intake for 6 mo (Apr–Oct 2014, n=39) and ...

We have previously shown a high prevalence of vitamin D inadequacy (serum 25-hydroxyvitamin D (S25(OH)D) <50 nmol/l) in adolescents (14–18 years) in the UK (51°N)(1). It is well recognised that vitamin D deficiency (S25(OH)D <25 nmol/l) increases the risk of rickets and impaired growth in adolescents, however the optimal vitamin D status for bone health is debated. The aim of this study was to investigate the effects of vitamin D status on bone hea...

Objectives: XLH features renal phosphate (Pi) wasting, hypophosphatemia, rickets, and skeletal deformities from elevated circulating levels of fibroblast growth factor 23 (FGF23). KRN23, an investigational fully human monoclonal antibody, binds FGF23 and inhibits its action. Our Phase 2 study of KRN23 in XLH children (ages 5–12 years) is demonstrating improvements in serum Pi and rickets. Here we present our Phase 2 trial evaluating the efficacy and safety of KRN23 in you...

Background: Hypophosphataemic rickets has been reported in patients on long term sodium valproate. This is usually due to proximal renal tubulopathy (RT). Distal RT or renal stones have not previously been reported.Presenting problem: We report the case of a 6 year old female with complex background (severe global developmental delay, epilepsy, PEG fed), on long term sodium valproate, who developed chronic hypophosphatemia and sustained a low impact femo...