Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It has been suggested that the parathyroid glands and the kidneys are insensitive to the high extracellular calcium levels found in familial benign hypercalcaemia (FBH) (familial hypocalciuric hypercalcaemia) and that there may be a general disorder of the plasma membrane 'calcium pump'. We have found that the activity of the calcium-stimulated, magnesium-dependent ATPase of erythrocyte ghost membranes from patients with FBH was significantly higher (p less than 0.01) than that from normal subjects. Values in FBH, as a group, were higher than those in primary hyperparathyroidism, but the difference was not significant. We suggest that the membrane abnormality in FBH could be a disorder of the regulation of the calcium pump.
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PMID:Calcium-ATPase activity in erythrocyte ghosts from patients with familial benign hypercalcaemia. 316 Jan 2

The fundamental biochemical abnormality in familial benign hypercalcaemia (FBH) (familial hypocalciuric hypercalcaemia) is unknown. It seemed possible that, since the kidneys and the parathyroid glands are insensitive to the high extracellular calcium levels, a general disorder of the regulation of the calcium pump on the plasma membrane is present. We obtained evidence suggesting that active calcium efflux by erythrocytes from patients with FBH (85.7 +/- 4.5 mumol 1(-1) min-1) is higher (P less than 0.005) than that by erythrocytes from control subjects (78.6 +/- 4.1 mumol 1(-1) min-1) or from patients with primary hyperparathyroidism (77.5 +/- 5.2 mumol 1(-1) min-1, P less than 0.05). Calcium influx into erythrocytes was normal in FBH and in primary hyperparathyroidism.
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PMID:Familial benign hypercalcaemia: a possible abnormality in calcium transport by erythrocytes. 609 79