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.
Infantile hypercalcemia can be efficiently treated by a low-calcium diet. Although serum calcium levels can be normalized PTH levels remain low.
Hypercalciuria | |
Hypercalciuria is most likely due to elevated plasma calcium levels. |
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OMIM.ORG article Omim 143880 |
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Orphanet article Orphanet ID 300547 |
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Wikipedia article Wikipedia EN (Williams_syndrome) |