Familial hypocalciuric hypercalcemia: Recognition among patients referred after unsuccessful parathyroid exploration

S. J. Marx, J. L. Stock, M. F. Attie, R. W. Downs, D. G. Gardner, E. M. Brown, A. M. Spiegel, J. L. Doppman, M. F. Brennan

Research output: Contribution to journalArticle

92 Scopus citations

Abstract

Of 67 patients referred after unsuccessful surgery for presumed primary hyperparathyroidism, 6 were shown to be members of kindreds with familial hypocalciuric hypercalcemia. This diagnosis had not been recognized in any of the 6 previously. Most of the remaining 61 cases had proven or probable typical primary hyperparathyroidism, and a subgroup of 4 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.

Original languageEnglish (US)
Pages (from-to)351-356
Number of pages6
JournalAnnals of internal medicine
Volume92
Issue number3
DOIs
StatePublished - Jan 1 1980
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine

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    Marx, S. J., Stock, J. L., Attie, M. F., Downs, R. W., Gardner, D. G., Brown, E. M., Spiegel, A. M., Doppman, J. L., & Brennan, M. F. (1980). Familial hypocalciuric hypercalcemia: Recognition among patients referred after unsuccessful parathyroid exploration. Annals of internal medicine, 92(3), 351-356. https://doi.org/10.7326/0003-4819-92-3-351