Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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:*[[Hypoparathyroidism (patient information)|Hypoparathyroidism]]
:*[[Hypoparathyroidism (patient information)|Hypoparathyroidism]]
:*[[Rickets (patient information)|Rickets]]
:*[[Rickets (patient information)|Rickets]]
 
{|
! colspan="8"  style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|Differential diagnosis of hyperparathyroidism on the basis of hypocalcemia}}
|-
| 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: #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 Phosphate}}
|style="background: #7d7d7d; text-align: center;" |{{fontcolor|#FFF|Other findings}}
|-
| 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;" |
*'''↓''' 1,25 Dihydroxy vitamin D
*Normal urinary cAMP
*Normal urinary phosphate
|-
| 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: #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>
| 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
* '''↓''' Urinary cAMP
* '''↓''' Urinary phosphate
|-
| 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).
*[[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
* '''↓''' Urinary cAMP
* ↓ Urinary phosphate
|-
| 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>
| 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
* '''↓''' Urinary cAMP
* '''↓''' 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]] (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
* Normal urinary cAMP
* '''↓''' Urinary phosphate
|-
| 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]]
| 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;" | --
|-
| 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
*Skeletal resistance to 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
* '''↓'''/Normal serum potassium
|}
{| class="wikitable"  
{| class="wikitable"  
| colspan="2" rowspan="2" |'''Disorders'''
| colspan="2" rowspan="2" |'''Disorders'''

Revision as of 19:34, 5 October 2017

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Overview

Differentiating Pseudohypoparathyroidism from other Diseases

Diseases with similar symptoms

Differential diagnosis of hyperparathyroidism on the basis of hypocalcemia
Disorders Mechanism of hypocalcemia Laboratory findings
Serum PTH Serum Calcium Serum Phosphate Other findings
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
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
Disorders Mechanism of hypocalcemia Laboratory findings
Serum PTH Serum Calcium Serum Phosphate Other findings
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 type 2 ↑ ↓ ↑ Multiple hormone resistance
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

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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