Case Report: Infantile hypercalcemia type 1 due to CYP24A1 pathogenic variants—three adult patients with nephrolithiasis and nephrocalcinosis successfully treated with fluconazole
Infantile hypercalcemia type 1 (HCINF1) is a rare genetic disorder caused by pathogenic variants in the CYP24A1 gene, which encodes the vitamin D–catabolic enzyme 24-hydroxylase responsible for inactivating 1,25-dihydroxyvitamin D₃. The clinical presentation ranges from severe forms diagnosed in infancy—characterized b...