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Familial Hypocalciuric Hypercalcemia: Recognition Among Patients Referred After Unsuccessful Parathyroid Exploration

STEPHEN J. MARX, M.D.; JOHN L. STOCK, M.D.; MAURICE F. ATTIE, M.D.; ROBERT W. DOWNS Jr., M.D.; DAVID G. GARDNER, M.D.; EDWARD M. BROWN, M.D.; ALLEN M. SPIEGEL, M.D.; JOHN L. DOPPMAN, M.D.; and MURRAY F. BRENNAN, M.D.
[+] Article and Author Information

Supplemental tables that include additional clinical, chemical, and histologic data are available from Dr. Marx.

▸Requests for reprints should be addressed to Stephen J. Marx, M.D.; Building 10, Room 9D-20, National Institutes of Health; Bethesda, MD 20205.


Bethesda, Maryland


Ann Intern Med. 1980;92(3):351-356. doi:10.7326/0003-4819-92-3-351
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Of 67 patients referred after unsuccessful surgery for presumed primary hyperparathyroidism, six were shown to be members of kindreds with familial hypocalciuric hypercalcemia. This diagnosis had not been recognized in any of the six previously. Most of the remaining 61 cases had proven or probable typical primary hyperparathyroidism, and a subgroup of four had hypercalcemia with suppression of the parathyroid glands. Urine calcium excretion expressed as the calcium:creatinine clearance ratio provided an easily measurable and effective index to separate the groups with familial hypocalciuric hypercalcemia, typical primary hyperparathyroidism, and suppressed parathyroids. Thus, at least 9% of patients referred after unsuccessful parathyroidectomy had familial hypocalciuric hypercalcemia. The assessment of urine calcium excretion by indices such as the calcium:creatinine clearance ratio should facilitate recognition of this condition, which responds poorly to standard subtotal parathyroidectomy.

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