Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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| rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center"  |Acrodysostosis  
| 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: #DCDCDC;" align="center"| Acrodysostosis type 1  
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| style="padding: 5px 5px; background: #F5F5F5;" align="center"
* [[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 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).
* [[Genetic defect]] causing end organ resistance to the action of [[parathyroid hormone]] (PTH).
* [[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance
* [[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).
* [[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
* 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
|}
|}



Revision as of 20:11, 5 October 2017

Pseudohypoparathyroidism Microchapters

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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
Serum PTH Serum Calcium Serum Phosphate Other findings
Pseudohypoparathyroidism [1][2][3] Type 1a
  • 1,25 Dihydroxy vitamin D
  • Urinary cAMP
  • Urinary phosphate
Type 1b
  • 1,25 Dihydroxy vitamin D
  • Urinary cAMP
  • ↓ Urinary phosphate
Type 1c
  • 1,25 Dihydroxy vitamin D
  • Urinary cAMP
  • Urinary phosphate
Type 2
  • 1,25 Dihydroxy vitamin D
  • Normal urinary cAMP
  • Urinary phosphate
Pseudopseudohypoparathyroidism 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 type 2 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" 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

  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. 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. 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. 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.
  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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