"1735-8582" . . "Iranian Journal of Kidney Diseases" . "Bayer, Milan" . "11150" . "Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia"@en . . . "RIV/00216208:11150/13:10139470!RIV14-MSM-11150___" . "Konrad, Martin" . . . "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."@en . "Kutilek, \u0160t\u011Bp\u00E1n" . "I" . . . . . "3"^^ . "pamidronate; failure to thrive; infant; infantile hypercalcemia"@en . . "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." . . "5"^^ . "80961" . "\u010Cern\u00E1, Lucie" . . "Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia" . . "000319235500015" . "Schlingmann, Karl-Peter" . . "Sk\u00E1lov\u00E1, Sylva" . "7" . "http://search.proquest.com/docview/1346555919" . "IR - \u00CDr\u00E1nsk\u00E1 isl\u00E1msk\u00E1 republika" . "6"^^ . . "[3ECE60993A4F]" . . "RIV/00216208:11150/13:10139470" . . "Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia"@en . . "2" . "Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia" .