Article
[New Mutation of CYP24A1 in a Case of Idiopathic Infantile Hypercalcemia Diagnosed in Adulthood].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 22 Dec 2023
Zanchelli F, Giudicissi A, Neri L, Sgarlato V, Bruno P F, Ruggeri M, Signorotti S, Vetrano D, Buscaroli A
Abstract excerpt
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,...
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