ESPE Abstracts

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...

Introduction: Parathyroid Hormone (PTH) is one of the principal regulatory hormones for calcium and phosphate homeostasis. Reduced PTH concentration in hypoparathyroidism is characterised by hypocalcaemia and hyperphosphataemia.Case Presentation: We report a ten-year-old girl who was admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology due to repeated seizures, hypoalcaemia with suspected...

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...