Idiopathic hypercalcemia of infancy

Common Name(s)

Idiopathic hypercalcemia of infancy

Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by {8:Schlingmann et al., 2011}). Genetic Heterogeneity Infantile hypercalcemia-2 (HCINF2; {616963}) is caused by mutation in the SLC34A1 gene ({182309}) on chromosome 5q35.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Idiopathic hypercalcemia of infancy" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH
 

Status: Recruiting

Condition Summary: Idiopathic Infantile Hypercalcemia - Mild Form

 

Last Updated: 22 Dec 2017

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Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
 

Status: Not yet recruiting

Condition Summary: Idiopathic Infantile Hypercalcaemia - Severe Form; Genetic Disease; Hypercalcemia, Idiopathic, of Infancy; Hypercalciuric Hypercalcemia; Idiopathic Infantile Hypercalcemia - Mild Form; Hypercalciuria

 

Last Updated: 3 May 2018

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