Infantile hypercalcemia

Infantile hypercalcemia is an autosomal recessive disorder caused by mutations of the CYP24A1 gene. The disease is characterized by growth retardation, polyuria and dehydration, muscular hypotonia, and nephrocalcinosis. PTH levels are suppressed and remain low even after normalization of serum calcium.

Management

Infantile hypercalcemia can be efficiently treated by a low-calcium diet. Although serum calcium levels can be normalized PTH levels remain low.

Systematic

Inherited disorders of calcium balance
	Familial hypocalciuric hypercalcemia type 1
	Familial hypocalciuric hypercalcemia type 2
	Familial hypocalciuric hypercalcemia type 3
	Familial tumoral calcinosis
	Hypophosphatasia
	Infantile hypercalcemia
		CYP24A1