Di Maio Federica, Vittori Matteo, Bassi PierFrancesco, Fulignati Pierluigi, D'Alonzo Silvia, Ferraro Pietro Manuel
UOC di Nefrologia Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.
UOC di Urologia, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy.
G Ital Nefrol. 2018 May;35(3).
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.
CYP24A1基因突变与25-羟基-D-24-羟化酶活性改变有关，导致维生素D代谢功能障碍。这种酶缺乏可能导致高钙血症、甲状旁腺激素水平降低、高钙尿症、肾结石和肾钙质沉着症。本文描述了一名患有复发性肾结石、高钙血症和高钙尿症的年轻女性的临床病例。这些特征与25-羟基-D-24-羟化酶缺乏有关，因此与CYP24A1基因的双等位基因突变有关。
