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Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1] It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day ...
Once calcium is confirmed to be elevated, a detailed history taken from the subject, including review of medications, any vitamin supplementations, herbal preparations, and previous calcium values. Chronic elevation of calcium with absent or mild symptoms often points to primary hyperparathyroidism or Familial hypocalciuric hypercalcemia. For ...
Like hypocalcemia, hypercalcemia can be non-severe and present with no symptoms, or it may be severe, with life-threatening symptoms. Hypercalcemia is most commonly caused by hyperparathyroidism and by malignancy, and less commonly by vitamin D intoxication, familial hypocalciuric hypercalcemia and by sarcoidosis. [2]
Mutations that inactivate a CaSR gene cause familial hypocalciuric hypercalcemia (FHH) (also known as familial benign hypercalcemia because it is generally asymptomatic and does not require treatment), [24] when present in heterozygotes. Patients who are homozygous for CaSR inactivating mutations have more severe hypercalcemia. [25]
Diagnosis typically occurs during infancy or early childhood and is based around physical characteristics and symptoms. X-rays may reveal abnormal development of the bulbous ends of the metaphyses of the limb bones. Tests that detect hypercalciuria and hypercalcaemia are also helpful in the diagnosis. [5] [6]
Hypocalciuria is a low level of calcium in the urine.It is a significant risk factor for predicting eclampsia in pregnancy. [1] The most common causes for hypocalciuria is either thiazide diuretics or reduced dietary intake of calcium.
Idiopathic hypercalcinuria (IH) is a condition including an excessive urinary calcium level with a normal blood calcium level resulting from no underlying cause. [1] IH has become the most common cause of hypercalciuria and is the most serious metabolic risk factor for developing nephrolithiasis. [1]
Primary treatment of hypercalcemia consists of administering IV fluids. [3] If the hypercalcemia is severe and/or associated with cancer, it may be treated with bisphosphonates. [3] [14] For very severe cases, hemodialysis may be considered for rapid removal of calcium from the blood. [3] [14]