Abstract
Background/Aims: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH). Methods: We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels
| Original language | English |
|---|---|
| Pages (from-to) | 193-204 |
| Number of pages | 12 |
| Journal | Nephron |
| Volume | 133 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2016 |
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Keywords
- <italic>CYP24A1</italic>
- Hypercalcemia
- Mutation
- Nephrocalcinosis
- Nephrolithiasis
- PTH
ASJC Scopus subject areas
- Physiology
- Nephrology
- Urology
- Physiology (medical)
Cite this
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. / Gigante, M.; Santangelo, Luisa; Diella, Sterpeta; Caridi, Gianluca; Argentiero, Lucia; D'Alessandro, Maria Michela; Martino, Marida; Stea, Emma Diletta; Ardissino, Gianluigi; Carbone, Vincenza; Pepe, Silvana; Scrutinio, Domenico; Maringhini, Silvio; Ghiggeri, Gian Marco; Grandaliano, Giuseppe; Giordano, M.; Gesualdo, L.
In: Nephron, Vol. 133, No. 3, 2016, p. 193-204.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia
AU - Gigante, M.
AU - Santangelo, Luisa
AU - Diella, Sterpeta
AU - Caridi, Gianluca
AU - Argentiero, Lucia
AU - D'Alessandro, Maria Michela
AU - Martino, Marida
AU - Stea, Emma Diletta
AU - Ardissino, Gianluigi
AU - Carbone, Vincenza
AU - Pepe, Silvana
AU - Scrutinio, Domenico
AU - Maringhini, Silvio
AU - Ghiggeri, Gian Marco
AU - Grandaliano, Giuseppe
AU - Giordano, M.
AU - Gesualdo, L.
PY - 2016
Y1 - 2016
N2 - Background/Aims: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH). Methods: We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels
AB - Background/Aims: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH). Methods: We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels
KW - <italic>CYP24A1</italic>
KW - Hypercalcemia
KW - Mutation
KW - Nephrocalcinosis
KW - Nephrolithiasis
KW - PTH
UR - http://www.scopus.com/inward/record.url?scp=84978481279&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84978481279&partnerID=8YFLogxK
U2 - 10.1159/000446663
DO - 10.1159/000446663
M3 - Article
VL - 133
SP - 193
EP - 204
JO - Experimental Nephrology
JF - Experimental Nephrology
SN - 0028-2766
IS - 3
ER -