Pseudohypoparathyroidism differential diagnosis: Difference between revisions

Latest revision as of 20:39, 26 February 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Pseudohypoparathyroidism can be differentiated from other causes of increased parathyroid hormone( PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, acrodysostosis, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.

Differentiating Pseudohypoparathyroidism from other Diseases

Pseudohypoparathyroidism can be differentiated from other causes of increased parathyroid hormone( PTH) and parathyroid hormone resistance like Blomstrand chondrodysplasia, acrodysostosis, hypomagnesemia, hypoparathyroidism and hyperparathyroidism.^[1]^[2]^[3]^[4]

Differential diagnosis of Pseudohypoparathyroidism
Disorders		Mechanism	Laboratory findings
Disorders		Mechanism	Serum PTH	Serum Calcium	Serum Phosphate	Other findings
Pseudohypoparathyroidism ^[1]^[2]^[3]	Type 1a	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH) Heterozygous GNAS inactivating mutations that reduce expression or function of Gα_s Genetic mutation disrupts both receptor-mediated activation of adenylyl cyclase and receptor-independent activation of the enzyme.	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D ↓ Urinary cAMP ↓ Urinary phosphate
	Type 1b	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Familial- heterozygous deletions in STX16, NESP55, and/or AS exons or loss of methylation at GNAS	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D ↓ Urinary cAMP ↓ Urinary phosphate
	Type 1c	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Heterozygous GNAS inactivating mutations that reduce expression or function of Gα_s Genetic mutation disrupts receptor-mediated activation of adenylyl cyclase but does not affect receptor-independent activation of the enzyme.	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D ↓ Urinary cAMP ↓ Urinary phosphate
	Type 2	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH).	↑	↓	↑	↓ 1,25 Dihydroxy vitamin D Normal urinary cAMP ↓ Urinary phosphate
	Pseudopseudohypoparathyroidism	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH). Combination of inactivating mutations of GNAS1 and Albright's osteodystrophy	Normal	Normal	Normal	--
Hypoparathyroidism		There is deficiency of parathyroid hormone in hypoparathyroidism. Deficiency of parathyroid hormone causes body to decrease: Reabsorption of calcium from bone. Excretion of phosphate. Reabsorbtion of calcium from distal tubules. Vitamin D mediated absorption of calcium from intestine.	↓	↓	↑	↓ 1,25 Dihydroxy vitamin D Normal urinary cAMP Normal urinary phosphate
Hypomagnesemia^[5]^[4]		Decreased parathyroid hormone (PTH) secretion Skeletal resistance to parathyroid hormone (PTH)	Inappropriately ↓	Normal/↓	--	↓ serum magnesium ↓/Normal serum potassium
Acrodysostosis	Acrodysostosis type 1	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH) PRKAR1A germ-line mutation in the encoding gene resulting in parathyroid resistance	↑	↓	↑	Multiple hormone resistance
Acrodysostosis	Acrodysostosis type 2	Genetic defect causing end organ resistance to the action of parathyroid hormone (PTH) Phosphodiesterase 4D (PDE4D) gene mutation resulting in parathyroid resistance	↑	↓	↑	Multiple hormone resistance
Blomstrand chondrodysplasia		Genetic defectcausing end organ resistance to the action of parathyroid hormone (PTH) Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance	↑	↓	↑	↓ Urinary Phosphate, ↑ Urinary cAMP
Hyperparathyroidism	Primary hyperparathyroidism	Increase in secretion of parathyroid hormone (PTH) from a primary process in parathyroid gland. Parathyroid hormone causes increase in serum calcium.	↑	↑	↓/Normal	Normal/↑ calcitriol
	Secondary hyperparathyroidism	Increase in secretion of parathyroid hormone (PTH) from a secondary process. Parathyroid hormone causes increase in serum calcium after long periods.	↑	↓/Normal	↑	--
	Tertiary hyperparathyroidism	Continuous elevation of parathyroid hormone(PTH) even after successful treatment of the secondary cause of elevated parathyroid hormone. Parathyroid hormone causes increase in serum calcium.	↑	↑	↑	--

References

↑ ^1.0 ^1.1 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.
↑ ^2.0 ^2.1 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.
↑ ^3.0 ^3.1 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.
↑ ^4.0 ^4.1 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.
↑ 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.

Template:WikiDoc Sources

[pmid23076042-1] 1.0 ^1.1 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.

[pmid21816789-2] 2.0 ^2.1 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.

[pmid25891861-3] 3.0 ^3.1 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.

[pmid227929-4] 4.0 ^4.1 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.

[pmid26069819-5] 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.

[1]

[2]

[3]

[4]

[5]

@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Pseudohypoparathyroidism}}
+[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Pseudohypoparathyroidism]]
-{{CMG}}; {{AE}}
+{{CMG}}; {{AE}} {{Mazia}}
-{{PleaseHelp}}
 ==Overview==
+Pseudohypoparathyroidism can be differentiated from other causes of [[increased parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia, [[acrodysostosis]], [[hypomagnesemia]], [[hypoparathyroidism]] and [[hyperparathyroidism]].
 ==Differentiating Pseudohypoparathyroidism from other Diseases==
+<div style="width:85%;">
+*Pseudohypoparathyroidism can be differentiated from other causes of increased [[parathyroid hormone]]( PTH) and [[parathyroid hormone]] resistance like Blomstrand chondrodysplasia, [[acrodysostosis]], [[hypomagnesemia]], [[hypoparathyroidism]] and [[hyperparathyroidism]].<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><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>
 {|
-! colspan="8"  style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Increased Parathyroid hormone(PTH)}}
+! colspan="8" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of Pseudohypoparathyroidism}}
 |-
 | 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 Increase in PTH'''}}
+| rowspan="2" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|'''Mechanism'''}}
 ! colspan="4" style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Laboratory findings}}
 |-
-|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}}
+| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum PTH}}
-|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}}
+| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Calcium}}
-|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}}
+| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Serum Phosphate}}
-|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
+| style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
 |-
-| 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>
+! 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="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1a'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
+*[[Genetic defect]] causing end [[Organ (biology)|organ]] resistance to the action of [[parathyroid hormone]] (PTH)
-*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating mutations that reduce expression or function of Gα<sub>s</sub>
+*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>
+*[[Genetic mutation]] disrupts both receptor-mediated activation of [[adenylyl cyclase]] and receptor-independent activation of the enzyme.
 | 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
+* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
-* '''↓''' Urinary cAMP
+* '''↓''' [[CAMP|Urinary cAMP]]
-* '''↓''' Urinary phosphate
+* '''↓''' [[Phosphate|Urinary phosphate]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b'''
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1b'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
+*[[Genetic defect]] causing end [[Organ (biology)|organ]] resistance to the action of [[parathyroid hormone]] (PTH).
-*[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS exons or loss of [[methylation]] at ''[[GNAS1|GNAS]]''
+*[[Familial]]- [[heterozygous]] deletions in ''[[STX16|STX]]16'', NESP55, and/or AS [[exons]] or loss of [[methylation]] at ''[[GNAS1|GNAS]]''
 | 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
+* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
-* '''↓''' Urinary cAMP
+* '''↓''' [[CAMP|Urinary cAMP]]
-* ↓ Urinary phosphate
+* ↓ [[Phosphate|Urinary phosphate]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c'''
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Type 1c'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
-*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating mutations that reduce expression or function of Gα<sub>s</sub>
+*[[Heterozygous]] ''[[GNAS1|GNAS]]'' inactivating [[mutations]] that reduce expression or function of Gα<sub>s</sub>
+*[[Genetic mutation]] disrupts receptor-mediated activation of [[adenylyl cyclase]] but does not affect receptor-independent activation of the [[enzyme]].
 | 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
+* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
-* '''↓''' Urinary cAMP
+* '''↓''' [[CAMP|Urinary cAMP]]
-* '''↓''' Urinary phosphate
+* '''↓''' [[Phosphate|Urinary phosphate]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC;" align="center" |Type 2
+! 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]] (PTH).
@@ Line 65: / Line 67: @@
 | style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
-* '''↓''' 1,25 Dihydroxy vitamin D
+* '''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
-* Normal urinary cAMP
+* [[CAMP|Normal urinary cAMP]]
-* '''↓''' Urinary phosphate
+* '''↓''' [[Phosphate|Urinary phosphate]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism'''
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Pseudopseudohypoparathyroidism'''
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
-*Combination of inactivating mutations of ''[[GNAS1]]'' and [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]
+*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
@@ Line 78: / Line 80: @@
 | style="padding: 5px 5px; background: #F5F5F5;" | --
 |-
-| 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>
+! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hypoparathyroidism]]'''
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*There is deficiency of [[parathyroid hormone]] in [[hypoparathyroidism]].
+*Deficiency of [[parathyroid hormone]] causes body to decrease:
+**Reabsorption of [[calcium]] from [[bone]].
+**Excretion of [[phosphate]].
+**Reabsorbtion of [[calcium]] from [[distal tubules]].
+**[[Vitamin D]] mediated [[absorption]] of [[calcium]] from [[intestine]].
+| 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;" |
+*'''↓''' [[Vitamin D|1,25 Dihydroxy vitamin D]]
+*[[CAMP|Normal urinary cAMP]]
+*[[Phosphate group|Normal urinary phosphate]]
+|--
+|-
+! 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;" |
-*Decreased parathyroid hormone (PTH) secretion
+*Decreased [[parathyroid hormone]] (PTH) secretion
-*Skeletal resistance to PTH
+*Skeletal resistance to [[parathyroid hormone]] (PTH)
 | 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
+* '''↓''' [[Magnesium|serum magnesium]]
-* '''↓'''/Normal serum potassium
+* '''↓'''/Normal [[Potassium|serum potassium]]
 |-
-| rowspan="2" |Acrodysostosis
+! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Acrodysostosis]]'''
-|Acrodysostosis type 1
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 1'''
-|
+| style="padding: 5px 5px; background: #F5F5F5;" |
-* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
+* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH)
-* ''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance
+* ''PRKAR1A'' germ-line [[Mutations|mutation]] in the encoding [[gene]] resulting in [[parathyroid]] resistance
-|'''↑'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
-|'''↓'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↓'''
-|'''↑'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
-|Multiple hormone resistance
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Multiple hormone resistance
+|-
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" | '''Acrodysostosis type 2'''
+| style="padding: 5px 5px; background: #F5F5F5;" |
+* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH)
+* [[Phosphodiesterase]] 4D (PDE4D) [[gene mutation]] resulting in [[parathyroid]] resistance
+| 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;" align="center" |Multiple hormone resistance
+|-
+! colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''Blomstrand chondrodysplasia'''
+| style="padding: 5px 5px; background: #F5F5F5;" |
+* [[Genetic defect]]<nowiki/>causing end organ resistance to the action of [[parathyroid hormone]] (PTH)
+* [[Homozygous]] or [[heterozygous]] [[mutations]] in both [[alleles]] encoding the [[Parathyroid hormone receptor 1|type 1 parathyroid hormone receptor]] resulting in [[parathyroid]] resistance
+| 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;" align="center" |'''↓''' Urinary [[Phosphate]], '''↑''' Urinary [[cAMP]]
+|-
+! rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism]]'''
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Primary hyperparathyroidism]]'''
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Increase in secretion of [[parathyroid hormone]] (PTH) from a primary process in [[parathyroid gland]].
+*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]].
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |'''↑'''
+| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↓/Normal
+| style="padding: 5px 5px; background: #F5F5F5;" |Normal/↑ [[calcitriol]]
+|-
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Secondary hyperparathyroidism]]'''
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Increase in secretion of [[parathyroid hormone]] (PTH) from a secondary process.
+*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]] after long periods.
+| 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;" | --
+|-
+! style="padding: 5px 5px; background: #DCDCDC;" align="center" |'''[[Hyperparathyroidism|Tertiary hyperparathyroidism]]'''
+| style="padding: 5px 5px; background: #F5F5F5;" |
+*Continuous elevation of [[Parathyroid hormone|parathyroid hormone(PTH)]] even after successful treatment of the secondary cause of elevated [[parathyroid hormone]].
+*[[Parathyroid hormone]] causes increase in [[Calcium|serum calcium]].
+| 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;" |
+--
 |-
-|Acrodysostosis type 2
-|
-* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
-* [[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance
-|'''↑'''
-|'''↓'''
-|'''↑'''
-|Multiple hormone resistance
-|-
-| colspan="2" |Blomstrand chondrodysplasia
-|
-* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
-* Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance
-|'''↑'''
-|'''↓'''
-|'''↑'''
-|'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP
 |}
+</div>
 ==References==

Pseudohypoparathyroidism differential diagnosis: Difference between revisions

Latest revision as of 20:39, 26 February 2019

Overview

Differentiating Pseudohypoparathyroidism from other Diseases

References

Navigation menu