Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia

Iran J Kidney Dis. 2013 Mar;7(2):160-4.

Abstract

Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.  

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / metabolism
  • Bone Density Conservation Agents / therapeutic use*
  • Calcium / metabolism*
  • Child, Preschool
  • Diagnosis, Differential
  • Diphosphonates / therapeutic use*
  • Humans
  • Hypercalcemia / diagnosis
  • Hypercalcemia / drug therapy*
  • Hypercalcemia / genetics*
  • Infant
  • Male
  • Mutation
  • Pamidronate
  • Steroid Hydroxylases / genetics*
  • Treatment Outcome
  • Vitamin D3 24-Hydroxylase

Substances

  • Biomarkers
  • Bone Density Conservation Agents
  • Diphosphonates
  • Steroid Hydroxylases
  • CYP24A1 protein, human
  • Vitamin D3 24-Hydroxylase
  • Pamidronate
  • Calcium