Familial hypocalciuric hypercalcemia laboratory findings

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]


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

References

↑ “Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype”.
↑ Fuleihan G (2002). “Familial benign hypocalciuric hypercalcemia”. J. Bone Miner. Res. 17 Suppl 2: N51–6. PMID 12412778. Vancouver style error: initials (help)
↑ 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.
↑ 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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[urlFamilial_hypocalciuric_hypercalcemia_and_neonatal_severe_hyperparathyroidism._Effects_of_mutant_gene_dosage_on_phenotype.-1] “Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype”.

[pmid12412778-2] Fuleihan G (2002). “Familial benign hypocalciuric hypercalcemia”. J. Bone Miner. Res. 17 Suppl 2: N51–6. PMID 12412778. Vancouver style error: initials (help)

[pmid7356229-3] 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.

[pmid25658165-4] 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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Familial hypocalciuric hypercalcemia laboratory findings

Overview

Laboratory Findings

References

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