Familial benign hypercalcaemia: a possible abnormality in calcium transport by erythrocytes

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Abstract
The fundamental biochemical abnormality in familial benign hypercalcemia (FBH) (familial hypocalciuric hypercalcemia) is unknown. Since the kidneys and the parathyroid glands are insensitive to the high extracellular Ca levels, a general disorder of the regulation of the Ca+ pump on the plasma membrane might be present. Evidence suggesting that active Ca efflux by erythrocytes from patients with FBH (85.7 .+-. 4.5 .mu.mol l-1 min-1) is higher (P < 0.005) than that by erythrocytes from control subjects (78.6 .+-. 4.1 .mu.mol l-1 min-1) or from patients with primary hyperparathyroidism (77.5 .+-. 5.2 .mu.mol l-1 min-1, P < 0.05) was obtained. Ca influx into erythrocytes was normal in FBH and in primary hyperparathyroidism.