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==
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
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].
 
OR
 
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
 
OR
 
[Test] is usually normal among patients with [disease name].
 
OR
 
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
 
OR
 
There are no diagnostic laboratory findings associated with [disease name].


==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>


*There are no diagnostic laboratory findings associated with [disease name].
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
OR
| colspan="6" style="background: #4479BA; text-align: center;" | {{fontcolor|#FFF|'''Laboratory Findings of Familial Hypocalciuric Hypercalcemia'''}}
*An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
|+
*[Test] is usually normal among patients with [disease name].
! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Condition}}
*Laboratory findings consistent with the diagnosis of [disease name] include
! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|PTH}}
**[Abnormal test 1]
! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Serum Calcium}}
**[Abnormal test 2]
! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Serum phosphate}}
**[Abnormal test 3]
! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Urine Calcium}}
 
! colspan="1" rowspan="1" style="background: #4479BA; padding: 5px 5px;" | {{fontcolor|#FFFFFF|Urine Calcium/Serum Creatinine Ratio}}
*Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
|-
| 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 or ↑
| style="padding: 5px 5px; background: #F5F5F5;" | Normal
| 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'''}}
| style="padding: 5px 5px; background: #F5F5F5;" | ↑
| style="padding: 5px 5px; background: #F5F5F5;" | ↑
| style="padding: 5px 5px; background: #F5F5F5;" | ↓
| style="padding: 5px 5px; background: #F5F5F5;" | Normal
| style="padding: 5px 5px; background: #F5F5F5;" | ↑
|}


==References==
==References==

Latest revision as of 18:18, 2 October 2017

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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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