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Familial hypocalciuric hypercalcemia laboratory findings

Introduction

Overview

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] รท [serum Ca x 24-hour urine Cr].

Laboratory Findings

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 โ†‘ Normal โ†“ โ†“
Primary Hyperparathyroidism โ†‘ โ†‘ โ†“ Normal โ†‘
References

References

  1. โ†‘ “Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype”.
  2. โ†‘ Fuleihan G (2002). “Familial benign hypocalciuric hypercalcemia”. J. Bone Miner. Res. 17 Suppl 2: N51โ€“6. PMIDย 12412778. Vancouver style error: initials (help)
  3. โ†‘ 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): 351โ€“6. PMIDย 7356229.
  4. โ†‘ 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): L29โ€“30. doi:10.1210/jc.2014-4221. PMCย 5393510. PMIDย 25658165.

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