Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia

Authors

  • Sylva Skalova Department of Pediatrics, Charles University in Prague, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic Author
  • Lucie Cerna Department of Pediatrics, Charles University in Prague, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic Author
  • Milan Bayer Department of Pediatrics, Charles University in Prague, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic Author
  • Stepan Kutilek Department of Pediatrics, Pardubice Hospital and Faculty of Health Studies, University of Pardubice, Pardubice, Czech Republic Author
  • Martin Konrad Department of Pediatric Nephrology, University Children´s Hospital, Muenster, Germany Author
  • Karl-Peter Schlingmann Department of Pediatric Nephrology, University Children´s Hospital, Muenster, Germany Author

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.  

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Author Biographies

  • Sylva Skalova, Department of Pediatrics, Charles University in Prague, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic

    Associate Prof., MD, PhD

    Dept. of Pediatrics, Faculty of Medicine in Hradec Kralove, Charles University in Prague, Czech Republic

  • Lucie Cerna, Department of Pediatrics, Charles University in Prague, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic

    MD

    Dept. of Pediatrics, Faculty of Medicine in Hradec Kralove, Charles University in Prague, Czech Republic

  • Milan Bayer, Department of Pediatrics, Charles University in Prague, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic

    Prof.,MD, PhD, Chief,

    Dept. of Pediatrics, Faculty of Medicine in Hradec Kralove, Charles University in Prague,  Czech Republic

     

  • Stepan Kutilek, Department of Pediatrics, Pardubice Hospital and Faculty of Health Studies, University of Pardubice, Pardubice, Czech Republic

    Associate Prof., MD, PhD, Deputy Chief

    Dept. of Pediatrics, Pardubice Hospital and Faculty of Health Studies, Pardubice University, Czech Republic 

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Published

2013-03-12

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia. (2013). Iranian Journal of Kidney Diseases, 7(2), 160-164. https://www.ijkd.org/index.php/ijkd/article/view/810