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4 Cards in this Set
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Benign familial hypocalciuric hypercalcemia
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Benign familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by lifelong mild asymptomatic hypercalcemia. This disorder, which is caused by an inactivating mutation of the calcium-sensing receptor, must be distinguished from primary hyperparathyroidism to determine the need for parathyroid surgery.
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First-degree relatives of patients with this condition often have
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First-degree relatives of patients with this condition often have hypercalcemia, and 50% of them will carry the genetic trait for the disorder.
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he syndrome is diagnosed
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he syndrome is diagnosed by a urine calcium to creatinine clearance ratio of less than 0.01, measured in a fasting morning spot urine collection. The formula for determining the calcium to creatinine clearance ratio is (urine calcium × serum creatinine)/(serum calcium × urine creatinine).
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* Benign familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder that is diagnosed by a
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* Benign familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder that is diagnosed by a urine calcium to creatinine clearance ratio of less than 0.01.
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