ESPE Abstracts

Children affected by idiopathic infantile hypercalcemia (IIH) may develop polyuria, polydipsia, failure to thrive, developmental delay and nephrocalcinosis already during the first weeks of life. Elevated levels of activated 1-,25(OH)2D3 have been shown to cause the characteristic increase in serum calcium levels in this disorder. Two major underlying genetic causes have been identified so far: in IIH type 1 loss-of-function mutations in CYP24A1 ...