Familial hypocalciuric hypercalcemia: review of three cases.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia , also denominated familial benign hypercalcemia , is an uncommon cause of hypercalcemia . It is caused by mutations of the calcium-sensing receptor , which are inherited in an autosomal dominant high -penetrance fashion . Generally , patients are asymptomatic , and heterozygote cases are diagnosed in childhood or adulthood , when diagnostic work-up of an incidentally discovered hypercalcemia ensues . This disorder is characterized by moderate hypercalcemia , with normal parathormone levels and low urine calcium excretion . It is very important to diagnose this condition , as it does not require surgical procedures , unlike primary hyperparathyroidism , which needs parathyroidectomy in 50 % of cases . We present 3 cases of familial hypocalciuric hypercalcemia belonging to the same family , and provide an updated review on the topic .

Diseases
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Diseases presenting "with normal parathormone levels and low urine calcium excretion" symptom

familial hypocalciuric hypercalcemia

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