About Autosomal recessive infantile hypercalcemia

What is Autosomal recessive infantile hypercalcemia?

Autosomal recessive infantile hypercalcemia is a rare genetic disorder that is characterized by abnormally high levels of calcium in the blood. It is caused by mutations in the CASR gene, which is responsible for regulating calcium levels in the body. Symptoms of this disorder include vomiting, dehydration, constipation, and failure to thrive. Treatment typically involves medications to reduce calcium levels, as well as dietary changes and calcium supplements.

What are the symptoms of Autosomal recessive infantile hypercalcemia?

The symptoms of Autosomal recessive infantile hypercalcemia include:

-High levels of calcium in the blood
-Excessive thirst
-Frequent urination
-Vomiting
-Lethargy
-Poor appetite
-Failure to thrive
-Constipation
-Dehydration
-Muscle weakness
-Irritability
-Developmental delays
-Seizures
-Kidney stones

What are the causes of Autosomal recessive infantile hypercalcemia?

The causes of Autosomal recessive infantile hypercalcemia are not fully understood. However, it is believed to be caused by mutations in the CYP24A1 gene, which is responsible for the production of the enzyme 24-hydroxylase. This enzyme is responsible for the breakdown of vitamin D, which is necessary for the regulation of calcium levels in the body. Mutations in this gene can lead to an inability to properly break down vitamin D, resulting in elevated calcium levels in the blood. Other causes may include mutations in the CASR gene, which is responsible for the production of the calcium-sensing receptor, and mutations in the SLC34A1 gene, which is responsible for the production of a protein involved in calcium transport.

What are the treatments for Autosomal recessive infantile hypercalcemia?

1. Hydration: This involves providing the patient with fluids to help flush out excess calcium from the body.

2. Calcium-lowering medications: These medications help reduce the amount of calcium in the blood.

3. Vitamin D supplementation: Vitamin D helps the body absorb calcium from the diet.

4. Bisphosphonates: These medications help reduce the amount of calcium in the bones.

5. Surgery: In some cases, surgery may be necessary to remove the parathyroid glands, which are responsible for producing too much parathyroid hormone.

6. Dialysis: This is a procedure that helps remove excess calcium from the blood.

What are the risk factors for Autosomal recessive infantile hypercalcemia?

1. Mutations in the CASR gene
2. Family history of infantile hypercalcemia
3. Low levels of parathyroid hormone
4. Low levels of vitamin D
5. Low levels of calcium in the diet
6. Low levels of magnesium in the diet
7. Low levels of phosphorus in the diet
8. Certain medications, such as thiazide diuretics, lithium, and calcitriol
9. Certain medical conditions, such as renal tubular acidosis, hypoparathyroidism, and Williams syndrome

Is there a cure/medications for Autosomal recessive infantile hypercalcemia?

Yes, there are medications and treatments available for Autosomal recessive infantile hypercalcemia. Treatment typically involves medications to reduce calcium levels, such as diuretics, calcitonin, and bisphosphonates. In some cases, surgery may be necessary to remove the parathyroid glands. Additionally, dietary changes may be recommended to reduce calcium intake.