Familial hypocalciuric hypercalcemia laboratory findings: Difference between revisions
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{{Familial hypocalciuric hypercalcemia}} | {{Familial hypocalciuric hypercalcemia}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Ajay}} | ||
==Overview== | ==Overview== | ||
Calcium Creatinine Clearance Ratio is used to differentiate [[familial hypocalciuric hypercalcemia]] from primary [[hyperparathyroidism]], ratio < 0.01 suggestive of [[Familial hypocalciuric hypercalcemia|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]. | |||
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==Laboratory Findings== | ==Laboratory Findings== | ||
The laboratory findings of [[Familial hypocalciuric hypercalcemia|FHH]] are as follows<ref name="urlFamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC294052/ |title=Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. |format= |work= |accessdate=}}</ref><ref name="pmid12412778">{{cite journal |vauthors=Fuleihan Gel-H |title=Familial benign hypocalciuric hypercalcemia |journal=J. Bone Miner. Res. |volume=17 Suppl 2 |issue= |pages=N51–6 |year=2002 |pmid=12412778 |doi= |url=}}</ref><ref name="pmid7356229">{{cite journal |vauthors=Marx SJ, Stock JL, Attie MF, Downs RW, Gardner DG, Brown EM, Spiegel AM, Doppman JL, Brennan MF |title=Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration |journal=Ann. Intern. Med. |volume=92 |issue=3 |pages=351–6 |year=1980 |pmid=7356229 |doi= |url=}}</ref><ref name="pmid25658165">{{cite journal |vauthors=Marx SJ |title=Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium |journal=J. Clin. Endocrinol. Metab. |volume=100 |issue=2 |pages=L29–30 |year=2015 |pmid=25658165 |pmc=5393510 |doi=10.1210/jc.2014-4221 |url=}}</ref> | |||
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! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Urine Calcium/Serum Creatinine Ratio}} | ! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Urine Calcium/Serum Creatinine Ratio}} | ||
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| colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" |{{fontcolor|#FFFFFF|Familial Hypocalciuric Hypercalcemia}} | | colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" |{{fontcolor|#FFFFFF|'''Familial Hypocalciuric Hypercalcemia'''}} | ||
| style="padding: 5px 5px; background: #F5F5F5;" | Normal | | style="padding: 5px 5px; background: #F5F5F5;" | Normal | ||
| style="padding: 5px 5px; background: #F5F5F5;" | Normal or ↑ | | style="padding: 5px 5px; background: #F5F5F5;" | Normal or ↑ | ||
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| style="padding: 5px 5px; background: #F5F5F5;" | ↓ | | style="padding: 5px 5px; background: #F5F5F5;" | ↓ | ||
|- | |- | ||
| colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" |{{fontcolor|#FFFFFF|Primary Hyperparathyroidism}} | | colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" |{{fontcolor|#FFFFFF|'''Primary Hyperparathyroidism'''}} | ||
| style="padding: 5px 5px; background: #F5F5F5;" | ↑ | | style="padding: 5px 5px; background: #F5F5F5;" | ↑ | ||
| style="padding: 5px 5px; background: #F5F5F5;" | ↑ | | style="padding: 5px 5px; background: #F5F5F5;" | ↑ |
Latest revision as of 18:18, 2 October 2017
Familial hypocalciuric hypercalcemia Microchapters |
Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Diagnosis |
Treatment |
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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
- ↑ "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.