What is familial hypokalaciuric hypercalcaemia?

Familial hypokalciuric hypercalcaemia is a genetic disorder that results in a high calcium level due to mutation in the calcium receptor receptor gene. In most cases, the condition may be completely asymptomatic and unnoticed throughout their lives, which requires no treatment. Familial hypokalciurical hypercalcalcalcemia is sometimes also referred to as familial benign hypercalcaemia and may require genetic or other testing to distinguish between it and primary hyperparathyroidism, which more often causes calcium levels. The levels are low and increase calcium in the blood. This is referred to as hypercalcaemia. Normally, if the blood level in the blood increases, calcium urine output also increases, but in the case of familial hypocalci times hypercalciocaria, it does not apply and calcium levels tend to be low, low, which is low, which is low.

parathyroid gland is an important player in sensitive feedback mechanisms involved in the balance of calciumThe bodies and in the case of primary hyperparathyroidism levels of hormones of parathyroid hormones tend to be high. However, in the case of familial hypokalcury hypercalciocaemia, parathyroid hormone levels may be slightly increased or at normal levels. Differentiation between primary hyperparathyroidism and familial hypokalcury hypercalculation will be performed using a number of tests that may include genetic testing and calcium test with 24 -hour urine.

24 -hour calcium urine test is performed for 24 hours. It is usually recommended that the first urination is done in the toilet in the morning and all urine is then collected in a specific collection container obtained from the laboratory. This continues until another Morning, when the first urination in the bottle is also collected. The amount of calcium is then measured and low or high calcium excretion in the urine can be determined.

genetic testing is performed by sequencingM PCR and DNA on blood sample. The results of this test can only be obtained from the laboratory after 14 to 21 days. The diagnosis of familial hypokalcury hypercalcaemia and differentiation, among other conditions that can cause high calcium levels, is important to ensure proper treatment. In the case of primary hyperparathyroidism, parathyroidectomy or gland removal may be necessary. This is usually not recommended in patients with familial hypokalcury hypercalcuric hypercalcaemia.