Article
[A young girl with recurrent calculosis and hypercalcemia].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 1 May 2018
Di Maio Federica, Vittori Matteo, Bassi PierFrancesco, Fulignati Pierluigi, D'Alonzo Silvia, Ferraro Pietro Manuel
Abstract excerpt
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...
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