Bone Abstracts

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...

Objectives: The primary objective of this project was to determine the nature and timing of perceived early adverse effects associated with bisphosphonate therapy. Additional information was sought on how this affected the child and family, to determine if changes should be made to local guidelines.Methods: A Smartphone-based text message survey was sent to parents of patients receiving intravenous bisphosphonate therapy for primary and secondary osteopo...

Objective: Hypophosphataemic rickets (HPR) is associated with high concentrations of fibroblast growth factor 23 (FGF23). Chronically elevated FGF23 may impact on cardiac function and the skeleton. There is little evidence on how FGF23 changes with time in HPR or how it is affected by treatment. The aim of this study was to evaluate changes in FGF23 concentrations over time in patients with HPR.Methods: Retrospective data was collected from our Metabolic...

Background: We present a case of unusual delayed multi-systemic reaction, following treatment with Pamidronate. The reaction, resembling rhabdomyolysis, requiring intensive care support, has not been reported previously to our knowledge.Presenting problem: An 11 month old boy with severe osteogenesis imperfecta (OI) presented with hyperpyrexia and respiratory distress 10 days after his fifth cycle of Pamidronate. He had significant derangement of his bio...

Background: Primary hyperparathyroidism (PH), whilst common in elderly populations, is much rarer in adolescents. Although up to 90% of cases are sporadic in nature, hereditary cases make up less than 10% of remaining causes. Multiple genetic causes and syndromes have been described in the literature including multiple endocrine neoplasia (MEN), familial hypocalciuric hypercalcemia and hyperparathyroidism-jaw tumour syndrome (HPT-JT).Presenting problem: ...

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report two cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: Presenting problem: A 17-year-old b...

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...