Hypoparathyroidism differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Hypoparathyroidism]] | |||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
Hypoparathyroidism should be differentiated from other causes of [[hypocalcemia]]. Causes of [[hypocalcemia]] other than hypoparathyroidism include [[pseudohypoparathyroidism]], [[hypomagnesemia]], [[Vitamin D deficiency|hypovitaminosis D]], [[chronic kidney disease]], and relative [[hypocalcemia]] due to [[hypoalbuminemia]]. | |||
==Differentiating Hypoparathyroidism from other Diseases== | |||
Hypoparathyroidism should be differentiated from other causes of hypocalcemia. Causes of hypocalcemia other than hypoparathyroidism include: | |||
*[[Pseudohypoparathyroidism]] | |||
**Pseudohypoparathyroidism type 1 | |||
***Pseudohypoparathyroidism type 1a | |||
***Pseudohypoparathyroidism type 1b | |||
***Pseudohypoparathyroidism type 1c | |||
***Pseudopseudohypoparathyroidism | |||
**Pseudohypoparathyroidism type 2 | |||
*[[Hypomagnesemia]] | |||
*[[Vitamin D deficiency|Hypovitaminosis D]] | |||
*[[Chronic kidney disease]] | |||
*[[Hypoalbuminemia]] (relative [[hypocalcemia]]) | |||
{| | {| | ||
! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of hyperparathyroidism on the basis of hypocalcemia}} | |||
! colspan=" | |||
|- | |- | ||
| | | colspan="2" rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Disorders'''}} | ||
| rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Mechanism of hypocalcemia'''}} | |||
! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}} | |||
| | |||
| | |||
| | |||
| | |||
|- | |- | ||
|style="background: # | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}} | ||
| | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}} | ||
|style="background: # | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}} | ||
| | | style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}} | ||
|style="background: # | |||
| | |||
|style="background: # | |||
| | |||
|- | |- | ||
|style="background: #DCDCDC; | | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypoparathyroidism''' | ||
|style=" | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*There is deficiency of [[parathyroid hormone]] in hypoparathyroidism. | |||
|style=" | *Deficiency of [[parathyroid hormone]] causes body to decrease: | ||
**[[Reabsorption]] of [[calcium]] from [[bone]] | |||
**[[Excretion]] of [[phosphate]] | |||
|style=" | **[[Reabsorption]] of [[calcium]] from [[distal tubules]] | ||
**[[Vitamin D]] mediated [[absorption]] of [[calcium]] from [[intestine]] | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | |||
|style=" | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
|style=" | *'''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]] | ||
*Normal [[urinary]] [[cAMP]] | |||
*Normal [[urinary]] [[phosphate]] | |||
|- | |- | ||
|style="background: #DCDCDC; | | rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudohypoparathyroidism'''<ref name="pmid23076042">{{cite journal |vauthors=Levine MA |title=An update on the clinical and molecular characteristics of pseudohypoparathyroidism |journal=Curr Opin Endocrinol Diabetes Obes |volume=19 |issue=6 |pages=443–51 |year=2012 |pmid=23076042 |pmc=3679535 |doi=10.1097/MED.0b013e32835a255c |url=}}</ref><ref name="pmid21816789">{{cite journal |vauthors=Mantovani G |title=Clinical review: Pseudohypoparathyroidism: diagnosis and treatment |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=10 |pages=3020–30 |year=2011 |pmid=21816789 |doi=10.1210/jc.2011-1048 |url=}}</ref><ref name="pmid25891861">{{cite journal |vauthors=Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H |title=A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism |journal=J. Bone Miner. Res. |volume=30 |issue=10 |pages=1803–13 |year=2015 |pmid=25891861 |pmc=4580526 |doi=10.1002/jbmr.2532 |url=}}</ref> | ||
| | | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1a''' | ||
|style=" | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH). | |||
|style=" | *[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>. | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
|style=" | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
|style=" | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* '''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]] | |||
|style=" | * '''↓''' [[Urinary]] [[cAMP]] | ||
* '''↓''' [[Urinary System|Urinary]] [[phosphate]] | |||
|style=" | |||
|- | |- | ||
|style="background: #DCDCDC; | | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b''' | ||
|style="background: #F5F5F5 | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
|style="background: #F5F5F5; | *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] ([[Parathyroid hormone|PTH]]). | ||
|style="background: #F5F5F5; | *[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS [[exons]] or loss of [[methylation]] at ''[[GNAS1|GNAS]]''. | ||
|style="background: #F5F5F5; | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | ||
|style="background: #F5F5F5 | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | ||
|style="background: # | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | ||
|style="background: #F5F5F5 | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
|style="background: #F5F5F5; | * '''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]] | ||
|style="background: #F5F5F5; | * '''↓''' [[Urinary]] [[cAMP]] | ||
|style="background: #F5F5F5; | * '''↓''' [[Urinary System|Urinary]] [[phosphate]] | ||
|style="background: #F5F5F5 | |- | ||
|style="background: # | | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c''' | ||
|style="background: #F5F5F5 | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
| | *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] ([[Parathyroid hormone|PTH]]). | ||
*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>. | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* '''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]] | |||
* '''↓''' [[Urinary]] [[cAMP]] | |||
* '''↓''' [[Urinary System|Urinary]] [[phosphate]] | |||
|- | |||
| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 2''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] ([[Parathyroid hormone|PTH]]). | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* '''↓''' [[1,25-dihydroxy vitamin D|1,25 Dihydroxy vitamin D]] | |||
* Normal [[urinary]] [[cAMP]] | |||
* '''↓''' [[Urinary]] [[phosphate]] | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; | | style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism''' | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* | *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] ([[Parathyroid hormone|PTH]]). | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | *Combination of inactivating mutations of ''[[GNAS1]]'' and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]. | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -- | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; | | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypomagnesemia'''<ref name="pmid26069819">{{cite journal |vauthors=Jahnen-Dechent W, Ketteler M |title=Magnesium basics |journal=Clin Kidney J |volume=5 |issue=Suppl 1 |pages=i3–i14 |year=2012 |pmid=26069819 |pmc=4455825 |doi=10.1093/ndtplus/sfr163 |url=}}</ref><ref name="pmid227929">{{cite journal |vauthors=Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E |title=Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone |journal=J. Clin. Invest. |volume=64 |issue=5 |pages=1238–44 |year=1979 |pmid=227929 |pmc=371269 |doi=10.1172/JCI109578 |url=}}</ref> | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* | *Decreased [[parathyroid hormone]] (PTH) secretion. | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | *[[Skeleton|Skeletal]] resistance to [[parathyroid hormone]]. | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Inappropriately '''↓''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Normal/'''↓''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -- | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* '''↓''' [[Serum]] [[magnesium]] | |||
* '''↓'''/Normal [[serum]] [[potassium]] | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; | | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypoalbuminemia''' | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* | *Majority of [[calcium]] in [[blood]] is bound to [[albumin]]. So, when there is a [[Hypoalbuminemia|decrease in concentration of albumin]] due to any condition, there is a relative [[hypocalcemia]] as well. | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" align="center" | -- | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -- | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* '''↓''' [[Serum albumin]] | |||
*Normal [[albumin]]-corrected [[serum]] total [[calcium]] | |||
*Normal [[ionized]] [[calcium]] | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; | | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Hypovitaminosis D''' | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* | *Decrease in [[vitamin D]] mediated [[calcium]] [[absorption]] from [[intestine]]. | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''/Low-normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* '''↓''' [[25-hydroxy vitamin D|25 Hydroxy vitamin D]] | |||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; | | colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Chronic kidney disease''' | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* | *[[Chronic renal failure]] leads to high [[serum]] [[inorganic phosphate]] and low [[serum]] [[calcium]] and deficiency of active form of [[vitamin D]] ([[1,25-dihydroxy vitamin D]]/[[calcitriol]]). | ||
| style="padding: 5px 5px; background: #F5F5F5;"| | | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''/Normal | |||
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑''' | |||
| style="padding: 5px 5px; background: #F5F5F5;" | | |||
* '''↓''' [[Glomerular filtration rate]] | |||
|} | |} | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Disease]] | |||
[[Category:Medicine]] | |||
[[Category:Endocrinology]] | |||
[[Category:Parathyroid disorders]] | |||
[[Category:Up-To-Date]] |
Latest revision as of 22:18, 29 July 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Hypoparathyroidism should be differentiated from other causes of hypocalcemia. Causes of hypocalcemia other than hypoparathyroidism include pseudohypoparathyroidism, hypomagnesemia, hypovitaminosis D, chronic kidney disease, and relative hypocalcemia due to hypoalbuminemia.
Differentiating Hypoparathyroidism from other Diseases
Hypoparathyroidism should be differentiated from other causes of hypocalcemia. Causes of hypocalcemia other than hypoparathyroidism include:
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism type 1
- Pseudohypoparathyroidism type 1a
- Pseudohypoparathyroidism type 1b
- Pseudohypoparathyroidism type 1c
- Pseudopseudohypoparathyroidism
- Pseudohypoparathyroidism type 2
- Pseudohypoparathyroidism type 1
- Hypomagnesemia
- Hypovitaminosis D
- Chronic kidney disease
- Hypoalbuminemia (relative hypocalcemia)
Differential diagnosis of hyperparathyroidism on the basis of hypocalcemia | |||||||
---|---|---|---|---|---|---|---|
Disorders | Mechanism of hypocalcemia | Laboratory findings | |||||
Serum PTH | Serum Calcium | Serum Phosphate | Other findings | ||||
Hypoparathyroidism |
|
↓ | ↓ | ↑ |
| ||
Pseudohypoparathyroidism[1][2][3] | Type 1a |
|
↑ | ↓ | ↑ | ||
Type 1b |
|
↑ | ↓ | ↑ | |||
Type 1c |
|
↑ | ↓ | ↑ | |||
Type 2 |
|
↑ | ↓ | ↑ |
| ||
Pseudopseudohypoparathyroidism |
|
Normal | Normal | Normal | -- | ||
Hypomagnesemia[4][5] |
|
Inappropriately ↓ | Normal/↓ | -- | |||
Hypoalbuminemia |
|
-- | ↓ | -- | |||
Hypovitaminosis D |
|
↑ | ↓ | ↓/Low-normal | |||
Chronic kidney disease |
|
↑ | ↓/Normal | ↑ |
References
- ↑ Levine MA (2012). "An update on the clinical and molecular characteristics of pseudohypoparathyroidism". Curr Opin Endocrinol Diabetes Obes. 19 (6): 443–51. doi:10.1097/MED.0b013e32835a255c. PMC 3679535. PMID 23076042.
- ↑ Mantovani G (2011). "Clinical review: Pseudohypoparathyroidism: diagnosis and treatment". J. Clin. Endocrinol. Metab. 96 (10): 3020–30. doi:10.1210/jc.2011-1048. PMID 21816789.
- ↑ Lee S, Mannstadt M, Guo J, Kim SM, Yi HS, Khatri A, Dean T, Okazaki M, Gardella TJ, Jüppner H (2015). "A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism". J. Bone Miner. Res. 30 (10): 1803–13. doi:10.1002/jbmr.2532. PMC 4580526. PMID 25891861.
- ↑ Jahnen-Dechent W, Ketteler M (2012). "Magnesium basics". Clin Kidney J. 5 (Suppl 1): i3–i14. doi:10.1093/ndtplus/sfr163. PMC 4455825. PMID 26069819.
- ↑ Freitag JJ, Martin KJ, Conrades MB, Bellorin-Font E, Teitelbaum S, Klahr S, Slatopolsky E (1979). "Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone". J. Clin. Invest. 64 (5): 1238–44. doi:10.1172/JCI109578. PMC 371269. PMID 227929.