F Zanchelli, A Giudicissi, L Neri, V Sgarlato, P F Bruno, M Ruggeri, S Signorotti, D Vetrano, A Buscaroli
Mutations in the 24-hydroxylase gene CYP24A1 have been recognized as causes of childhood idiopathic hypercalcemia (IIH), a rare disease (incidence <1:1,000,000 live births) characterized by increased vitamin D sensitivity, with symptomatic severe hypercalcemia. IIH was first described in Great Britain two years after the start of a program of vitamin D supplementation in milk for the prevention of rickets, manifesting in about 200 children with severe hypercalcemia, dehydration, growth failure, weight loss, muscle hypotonia, and nephrocalcinosis...
December 22, 2023: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia