PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1

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Abstract
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by gain-of-function mutations in the gene encoding the calcium-sensing receptor (CASR),1,2 a condition that results in hypocalcemia and seizures, hypomagnesemia, hyperphosphatemia, reduced parathyroid hormone (PTH) levels, and hypercalciuria. The receipt of calcium and vitamin D analogues for the treatment of ADH1 predisposes patients to nephrocalcinosis and renal impairment.1,3 Calcium-sensing receptor antagonists, known as calcilytics, represent a possible treatment option2 but are available only as a research tool and have not been approved for clinical use. However, recombinant PTH (1-34) (a peptide consisting of 34 N-terminal PTH amino acids) may increase the serum calcium level without causing hypercalciuria in patients with some forms of hypoparathyroidism.4,5
Funding Information
  • Wellcome Trust (Wellcome Trust Investigator Award (106995/Z/15/Z))
  • National Institute for Health Research (Senior Investigator Award (NF-SI-0514–10091))
  • Horizon 2020 Framework Programme (Project ID: 675228)
  • Erasmus Plus Mobility Programme (2018-1-IT02-KA103-047045)