Familial hypocalciuric hypercalcemia laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]

Overview

Calcium Creatinine Clearance Ratio is used to differentiate familial hypocalciuric hypercalcemia from primary hyperparathyroidism, ratio < 0.01 suggestive of FHH and > 0.01 suggestive of primary hyperparathyroidism. Calcium creatinine clearance ratio = [24-hour urine Ca x serum Cr] ÷ [serum Ca x 24-hour urine Cr].

Laboratory Findings

The laboratory findings of FHH are as follows[1][2][3][4]

Laboratory Findings of Familial Hypocalciuric Hypercalcemia
Condition PTH Serum Calcium Serum phosphate Urine Calcium Urine Calcium/Serum Creatinine Ratio
Familial Hypocalciuric Hypercalcemia Normal Normal or ↑ Normal
Primary Hyperparathyroidism Normal

References

  1. "Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype".
  2. Fuleihan G (2002). "Familial benign hypocalciuric hypercalcemia". J. Bone Miner. Res. 17 Suppl 2: N51–6. PMID 12412778. Vancouver style error: initials (help)
  3. Marx SJ, Stock JL, Attie MF, Downs RW, Gardner DG, Brown EM, Spiegel AM, Doppman JL, Brennan MF (1980). "Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration". Ann. Intern. Med. 92 (3): 351–6. PMID 7356229.
  4. Marx SJ (2015). "Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium". J. Clin. Endocrinol. Metab. 100 (2): L29–30. doi:10.1210/jc.2014-4221. PMC 5393510. PMID 25658165.

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