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familial benign hypercalcaemia

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Familial hypocalciuric hypercalcaemia is a rare autosomal dominant disorder which has only recently been recognised in which there is reduced urinary calcium excretion - less than 200 mg (5mmol) per 24 hours - in the presence of hypercalcaemia (1)

There may be hypermagnaesaemia with normal or minimally elevated PTH.

Diagnosis is made on family history and determination of low urinary calcium clearance - unlike hyperparathyroidism.

  • a more up-to-date reference suggests that the diagnosis of familial hypocalciuric hypercalcaemia depends on assessment of urine calcium concentrations and measurement of the calcium/creatinine (Ca/Cr) clearance ratio in the patient and family members with hypercalcemia
    • in familial hypocalciuric hypercalcaemia, Ca/Cr clearance ratio is typically less than 0.01 (2)

No treatment is indicated as there is no response to parathyroidectomy. The prognosis is excellent.

There is a very rare autosomal recessive form which is lethal unless parathyroidectomy is performed.

Reference:

  1. Famialial hypocalciuric hypercalcaemia. Lancet 1982; 319(8270): 488-489
  2. Younes NA et al. Laboratory screening for hyperparathyroidism.Laboratory screening for hyperparathyroidism. Clin Chim Acta. 2005 Mar;353(1-2):1-12. Review.

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