About Familial hypocalciuric hypercalcemia type 2

What is Familial hypocalciuric hypercalcemia type 2?

Familial hypocalciuric hypercalcemia type 2 (FHH2) is an inherited disorder characterized by elevated levels of calcium in the blood (hypercalcemia) and low levels of calcium in the urine (hypocalciuria). It is caused by a mutation in the calcium-sensing receptor gene (CASR). People with FHH2 typically have no symptoms and do not require treatment.

What are the symptoms of Familial hypocalciuric hypercalcemia type 2?

The symptoms of Familial hypocalciuric hypercalcemia type 2 (FHH2) vary from person to person, but may include:

-High levels of calcium in the blood (hypercalcemia)
-Low levels of calcium in the urine (hypocalciuria)
-Abnormal levels of parathyroid hormone (PTH)
-Kidney stones
-Abdominal pain
-Fatigue
-Weakness
-Nausea
-Vomiting
-Loss of appetite
-Weight loss
-Bone pain
-Muscle pain
-Depression
-Confusion
-Memory loss
-Headache
-Dizziness
-Dehydration
-Frequent urination
-Excessive thirst

What are the causes of Familial hypocalciuric hypercalcemia type 2?

Familial hypocalciuric hypercalcemia type 2 (FHH type 2) is caused by a mutation in the calcium-sensing receptor (CaSR) gene. This gene is responsible for controlling the amount of calcium in the body. The mutation causes the receptor to be overly sensitive to calcium, resulting in higher than normal levels of calcium in the blood. This can lead to symptoms such as fatigue, muscle weakness, and kidney stones.

What are the treatments for Familial hypocalciuric hypercalcemia type 2?

1. Avoiding calcium-rich foods and supplements
2. Avoiding vitamin D supplements
3. Taking medications to reduce calcium levels in the blood, such as thiazide diuretics
4. Taking medications to reduce the amount of calcium absorbed from the intestine, such as calcitonin
5. Taking medications to reduce the amount of parathyroid hormone in the body, such as cinacalcet
6. Taking medications to reduce the activity of the parathyroid glands, such as lithium
7. Taking medications to reduce the activity of the kidneys, such as furosemide
8. Taking medications to reduce the activity of the liver, such as ursodiol
9. Taking medications to reduce the activity of the adrenal glands, such as prednisone
10. Taking medications to reduce the activity of the

What are the risk factors for Familial hypocalciuric hypercalcemia type 2?

1. Family history of Familial hypocalciuric hypercalcemia type 2
2. Genetic mutations in the CASR gene
3. Certain medications, such as thiazide diuretics
4. Certain medical conditions, such as hyperparathyroidism or sarcoidosis
5. Vitamin D deficiency
6. Excessive calcium intake
7. Excessive vitamin A intake
8. Excessive alcohol consumption
9. Smoking

Is there a cure/medications for Familial hypocalciuric hypercalcemia type 2?

Yes, there is a cure for Familial hypocalciuric hypercalcemia type 2. The treatment for this condition is to reduce the amount of calcium in the diet and to take medications that block the action of the calcium-sensing receptor. These medications include cinacalcet, calcimimetics, and bisphosphonates. Additionally, vitamin D supplements may be prescribed to help the body absorb calcium.