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Statements

Subject Item
n2:RIV%2F00216208%3A11150%2F13%3A10139470%21RIV14-MSM-11150___
rdf:type
skos:Concept n4:Vysledek
rdfs:seeAlso
http://search.proquest.com/docview/1346555919
dcterms:description
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. 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.
dcterms:title
Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia
skos:prefLabel
Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia
skos:notation
RIV/00216208:11150/13:10139470!RIV14-MSM-11150___
n4:predkladatel
n5:orjk%3A11150
n6:aktivita
n11:I
n6:aktivity
I
n6:cisloPeriodika
2
n6:dodaniDat
n10:2014
n6:domaciTvurceVysledku
n13:8549915 n13:7957238 n13:5977894
n6:druhVysledku
n15:J
n6:duvernostUdaju
n9:S
n6:entitaPredkladatele
n19:predkladatel
n6:idSjednocenehoVysledku
80961
n6:idVysledku
RIV/00216208:11150/13:10139470
n6:jazykVysledku
n17:eng
n6:klicovaSlova
pamidronate; failure to thrive; infant; infantile hypercalcemia
n6:klicoveSlovo
n14:pamidronate n14:failure%20to%20thrive n14:infant n14:infantile%20hypercalcemia
n6:kodStatuVydavatele
IR - Íránská islámská republika
n6:kontrolniKodProRIV
[3ECE60993A4F]
n6:nazevZdroje
Iranian Journal of Kidney Diseases
n6:obor
n16:FG
n6:pocetDomacichTvurcuVysledku
3
n6:pocetTvurcuVysledku
6
n6:rokUplatneniVysledku
n10:2013
n6:svazekPeriodika
7
n6:tvurceVysledku
Bayer, Milan Konrad, Martin Kutilek, Štěpán Černá, Lucie Schlingmann, Karl-Peter Skálová, Sylva
n6:wos
000319235500015
s:issn
1735-8582
s:numberOfPages
5
n7:organizacniJednotka
11150