2017, Number 4
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ABSTRACTFamilial hypocalciuric hypercalcemia is a genetic disorder of mineral metabolism, characterized by moderate hypercalcemia throughout lifelong with normo or hypocalciuric and there can be a discrete increase in parathyroid hormone. Case report: male aged 23, three weeks of evolution with headache, nausea, blurred vision, fatigue, insomnia and constipation. Normal physical examination except for blood pressure 170/100. With serum calcium of 11.5 mg/dl; low levels of 25-hydroxyvitamin D; scan with Technetium mibi of parathyroid and ultrasound scan / normal renal Doppler; relationship of debugging calcium/creatinine of 0.005 and urinary excretion of calcium of 98 mg/24 hours. The diagnosis was familial hypercalcemia hypocalciuric. Conclusion: high blood pressure can be caused by hypercalcemia; control of serum calcium concentration can improve blood pressure control and prevent damage to target organs.
Stratta P, Merlotti G, Musetti C, Quaglia M, et al. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. Nephrol Dial Transplant. 2014;29:1902-9.