Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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Overview

Differentiating Pseudohypoparathyroidism from other Diseases

Differential diagnosis of Increased Parathyroid hormone(PTH)
Disorders		Mechanism of Increase in PTH	Laboratory findings
Disorders		Mechanism of Increase in PTH	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	↑	↓	↑	↓ 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	↑	↓	↑	↓ 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	--
Hypomagnesemia^[4]^[5]		Decreased parathyroid hormone (PTH) secretion Skeletal resistance to PTH	Inappropriately ↓	Normal/↓	--	↓ serum magnesium ↓/Normal serum potassium
Acrodysostosis	Acrodysostosis type 1	style="padding: 5px 5px; background: #F5F5F5;" align="center" 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	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
Acrodysostosis	Acrodysostosis type 2	style="padding: 5px 5px; background: #F5F5F5;" align="center" 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
Blomstrand chondrodysplasia		style="padding: 5px 5px; background: #F5F5F5;" align="center" 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	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

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.

Template:WikiDoc Sources

[pmid23076042-1] 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] 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] 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.

[pmid26069819-4] 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.

[pmid227929-5] 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.

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@@ Line 91: / Line 91: @@
 | rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center"  |Acrodysostosis
 | style="padding: 5px 5px; background: #DCDCDC;" align="center"| Acrodysostosis type 1
-|
+| style="padding: 5px 5px; background: #F5F5F5;" align="center"
 * [[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
-|'''↑'''
+| 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;" align="center"style="padding: 5px 5px; background: #DCDCDC;" align="center"| Acrodysostosis type 2
-|
+| style="padding: 5px 5px; background: #F5F5F5;" align="center"
 * [[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"'''↑'''
-|Multiple hormone resistance
+| 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;" align="center"colspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Blomstrand chondrodysplasia
-|
+| style="padding: 5px 5px; background: #F5F5F5;" align="center"
 * [[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
-|'''↑'''
+| 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
+| style="padding: 5px 5px; background: #F5F5F5;" align="center"'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP
 |}

Pseudohypoparathyroidism differential diagnosis: Difference between revisions

Revision as of 20:11, 5 October 2017

Overview

Differentiating Pseudohypoparathyroidism from other Diseases

References

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