Article
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2018
De Paolis Elisa, Minucci Angelo, De Bonis Maria, Scaglione Giovanni Luca, Gervasoni Jacopo, Primiano Aniello, Ferraro Pietro Manuel, Cappellani Daniele, Marcocci Claudio, Gambaro Giovanni, Capoluongo Ettore
Abstract excerpt
INTRODUCTION: Loss-of-function mutations in cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH) and adult kidney stone disease. The enzyme deficiency leads to an impaired vitamin D catabolism pathway, resulting in a syndrome characterized by recurrent hypercalcemia, hypercalciuria and suppressed parathyroid hormone (PTH) levels. In these...
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