Abstract
| Original language | Italian |
|---|---|
| Pages (from-to) | 10 |
| Number of pages | 1 |
| Journal | Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia |
| Volume | 35 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 1 2018 |
Cite this
A young girl with recurrent calculosis and hypercalcemia. / Maio, F. Di; Vittori, M.; Bassi, P.; Fulignati, P.; D'Alonzo, S.; Ferraro, P. M.
In: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, Vol. 35, No. 3, 01.05.2018, p. 10.Research output: Contribution to journal › Article
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TY - JOUR
T1 - A young girl with recurrent calculosis and hypercalcemia
AU - Maio, F. Di
AU - Vittori, M.
AU - Bassi, P.
AU - Fulignati, P.
AU - D'Alonzo, S.
AU - Ferraro, P. M.
N1 - LR: 20180522; CI: Copyright by Societa Italiana di Nefrologia SIN, Rome, Italy.; JID: 9426434; OTO: NOTNLM; 2018/05/23 06:00 [entrez]; 2018/05/23 06:00 [pubmed]; 2018/05/23 06:00 [medline]; ppublish
PY - 2018/5/1
Y1 - 2018/5/1
N2 - Mutations of the CYP24A1 gene are associated with alterations in the activity of the enzyme 25-OH-D-24-hydroxylase, resulting in dysfunction of the metabolism of vitamin D. This enzymatic deficiency may cause hypercalcemia, low parathyroid hormone levels, hypercalciuria, nephrolithiasis and nephrocalcinosis. The clinical case of a young woman with recurrent renal lithiasis, hypercalcemia and hypercalciuria is described. These features are linked to deficiency of the enzyme 25-OH-D-24-hydroxylase, therefore to a biallelic mutation of the CYP24A1 gene.
AB - Mutations of the CYP24A1 gene are associated with alterations in the activity of the enzyme 25-OH-D-24-hydroxylase, resulting in dysfunction of the metabolism of vitamin D. This enzymatic deficiency may cause hypercalcemia, low parathyroid hormone levels, hypercalciuria, nephrolithiasis and nephrocalcinosis. The clinical case of a young woman with recurrent renal lithiasis, hypercalcemia and hypercalciuria is described. These features are linked to deficiency of the enzyme 25-OH-D-24-hydroxylase, therefore to a biallelic mutation of the CYP24A1 gene.
U2 - 2018-vol3 [pii]
DO - 2018-vol3 [pii]
M3 - Articolo
VL - 35
SP - 10
JO - Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
JF - Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
SN - 0393-5590
IS - 3
ER -