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Idiopathic Infantile Hypercalcemia (IIH) also spelled as Hypercalcaemia, is a condition that affects the levels of calcium found in the blood of infants. This condition is caused by a mutation in either the CYP24A1 gene or the SLC34A1 gene.

SUMMARIZE

Symptoms
Typically speaking, the parents of an infant that has hypercalcemia may not have or show any signs of having hypercalcemia. Also, the mnenomic used for the standard Hypercalcemia (Stones, Bones, Groans, Thrones, and Psychiatric overtones) cannot be used fully in the case of infants. As they are not able to accurately describe abnormalties that are happening to them. This makes individuals inclined to look for external or visual symptoms rather than internal ones. These visual symptoms can be:


 * Vomitting
 * Dehydration - (Can be caused by Polyuria)
 * Psychomotor Delay
 * Polyuria
 * Constipation
 * Weight Loss

Causes
Unlike standard Hypercalcemia, Idiopathic infantile hypercalcemia has a specific cause. The cause being a mutation in either the CYP24A1 gene or the SLC34A1 gene. Infantile hypercalemia can be classfied as Infantile hypercalcemia 1 or infantile hypercalcemia 2. A mutation in the CYP24A1 gene results in infantile hypercalcemia 1 whereas mutations in the SLC34A1 genes results in infantile hypercalcemia 2. Although the they may show little to no signs of having or suffering from hypercalcemia, In most cases the mutated genes in the infant were inherited from the parents.

Liquid Chromatography - Mass Spectrometry
One of the best ways to attempt diagnosing patients with idiopathic infantile hypercalcemia is using liquid chromatography in tandem with mass spectrometry. This allows one to measure the ratio of 25-hydroxyvitamin D: 24, 25-trihydroxyvitamin in an individuals blood. Values of this ratio will be elevated in a patients that suffer from idiopathic infantile hypercalcemia 1 which involves the lack of involves the lack of CYP24A1 activity. The lack of enzyme activity prevents 25-hydroxyvitamin D from being hydroxylated at the 24th carbon, leaving excess 25-hydroxyvitamin D in the bloood stream while also reducing the amount of 24: 25-trihydroxyvitamin D present

Blood Test
A simple blood test is another way to know if a patient has idiopathic infantile hypercalcemia. This allows one to see if their are increased calcium levels in their patients. However, it may not be as accurate as the liquid chromatography method in tandem with mass spectrometry. The main reason being an elevated blood calcium level may hint towards other conditions such as hyperthyroidism which can lead to hypercalcemia.

Genetic Testing
Genetic testing is yet another way to deduce if a patient has infantile hypercalcemia. However this time one must commit to the procedure is long so it is not preferred compared to the other options.