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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F13%3A10196760%21RIV14-MSM-11130___
rdf:type
skos:Concept n15:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1007/s00431-012-1818-1
dcterms:description
We report on a male infant presenting at 4 months of age with failure to thrive, dehydration, hypotonia, lethargy, and vomiting. Laboratory and imaging tests revealed severe hypercalcemia (5.8 mmol/l), suppressed parathyroid hormone (0.41 pmol/l), hypercalciuria (8.0 mmol/mmol creatinine), elevated 25-hydroxyvitamin D3 (over 600 nmol/l), and nephrocalcinosis. These symptoms are characteristic of idiopathic infantile hypercalcemia (IIH, MIM 143880). Conservative therapy (parenteral rehydration, diuretics, corticosteroids, bisphosphonates, and vitamin D prophylaxis withdrawal) was not able to improve the symptoms and laboratory values, and acute hemodiafiltration was necessary to normalize hypercalcemia. Clinical symptoms resolved rapidly after normalization of serum calcium levels. Molecular genetic testing revealed a homozygous mutation (R396W) in the CYP24A1 gene (MIM 126065) encoding 25-hydroxyvitamin D3 24-hydroxylase, which is the key enzyme responsible for 1,25-dihydroxyvitamin D3 degradation. The CYP24A1 gene mutation leads to the increased sensitivity of the patients to even prophylactic doses of vitamin D and to the development of severe symptomatic hypercalcemia in patients with IIH. Conclusion: Our patient is only the thirteenth patient with IIH caused by mutation in the CYP24A1 gene and the first one needing acute hemodiafiltration for severe symptomatic hypercalcemic crisis. In all patients with suspected IIH the DNA analysis for CYP24A1 gene mutations should be performed regardless of the type of vitamin D supplementation and serum levels of vitamin D. We report on a male infant presenting at 4 months of age with failure to thrive, dehydration, hypotonia, lethargy, and vomiting. Laboratory and imaging tests revealed severe hypercalcemia (5.8 mmol/l), suppressed parathyroid hormone (0.41 pmol/l), hypercalciuria (8.0 mmol/mmol creatinine), elevated 25-hydroxyvitamin D3 (over 600 nmol/l), and nephrocalcinosis. These symptoms are characteristic of idiopathic infantile hypercalcemia (IIH, MIM 143880). Conservative therapy (parenteral rehydration, diuretics, corticosteroids, bisphosphonates, and vitamin D prophylaxis withdrawal) was not able to improve the symptoms and laboratory values, and acute hemodiafiltration was necessary to normalize hypercalcemia. Clinical symptoms resolved rapidly after normalization of serum calcium levels. Molecular genetic testing revealed a homozygous mutation (R396W) in the CYP24A1 gene (MIM 126065) encoding 25-hydroxyvitamin D3 24-hydroxylase, which is the key enzyme responsible for 1,25-dihydroxyvitamin D3 degradation. The CYP24A1 gene mutation leads to the increased sensitivity of the patients to even prophylactic doses of vitamin D and to the development of severe symptomatic hypercalcemia in patients with IIH. Conclusion: Our patient is only the thirteenth patient with IIH caused by mutation in the CYP24A1 gene and the first one needing acute hemodiafiltration for severe symptomatic hypercalcemic crisis. In all patients with suspected IIH the DNA analysis for CYP24A1 gene mutations should be performed regardless of the type of vitamin D supplementation and serum levels of vitamin D.
dcterms:title
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
skos:prefLabel
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
skos:notation
RIV/00216208:11130/13:10196760!RIV14-MSM-11130___
n15:predkladatel
n16:orjk%3A11130
n4:aktivita
n18:I
n4:aktivity
I
n4:cisloPeriodika
1
n4:dodaniDat
n19:2014
n4:domaciTvurceVysledku
n8:1918923 n8:7517890 n8:2412721
n4:druhVysledku
n14:J
n4:duvernostUdaju
n11:S
n4:entitaPredkladatele
n17:predkladatel
n4:idSjednocenehoVysledku
104857
n4:idVysledku
RIV/00216208:11130/13:10196760
n4:jazykVysledku
n20:eng
n4:klicovaSlova
Nephrocalcinosis; Infant; Hypercalcemic crisis; CYP24A1 gene; Idiopathic infantile hypercalcemia
n4:klicoveSlovo
n10:Hypercalcemic%20crisis n10:CYP24A1%20gene n10:Nephrocalcinosis n10:Infant n10:Idiopathic%20infantile%20hypercalcemia
n4:kodStatuVydavatele
DE - Spolková republika Německo
n4:kontrolniKodProRIV
[EE00D9FF14A2]
n4:nazevZdroje
European Journal of Pediatrics
n4:obor
n5:FG
n4:pocetDomacichTvurcuVysledku
3
n4:pocetTvurcuVysledku
5
n4:rokUplatneniVysledku
n19:2013
n4:svazekPeriodika
172
n4:tvurceVysledku
Bláhová, Květa Seeman, Tomáš Fencl, Filip Schlingmann, Karl Peter Konrad, Martin
n4:wos
000313441400008
s:issn
0340-6199
s:numberOfPages
5
n9:doi
10.1007/s00431-012-1818-1
n12:organizacniJednotka
11130