Endocrine Abstracts

Hypercalcaemia has been previously described in association with ketogenic diet (KD), occurring within 12 months of starting KD. We present a case where severe hypercalcaemia occured after four years on KD.Case: A 5.5-year-old boy referred for hypercalcaemia in context of early sepsis and background of Dynamin-1 gene mutation causing infantile epileptic encephalopathy. He had been commenced on KD at 18 months of age for drug-resistant seizures. A Deep Br...

Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months(m) for 8 children with XLH starting burosuma...