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]] | ||
{| class="wikitable" | |||
{| class="wikitable" | colspan="2" rowspan="2" |'''Disorders''' | rowspan="2" |'''Mechanism of hypocalcemia''' | colspan="4" |'''Laboratory findings''' |- |Serum PTH |Serum Calcium |Serum Phosphate |Other findings |- | rowspan="2" |Acrodysostosis |Acrodysostosis type 1 |''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance |'''↑''' |'''↓''' |'''↑''' |Multiple hormone resistance |- |Acrodysostosis type 2 |[[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance |'''↑''' |'''↓''' |'''↑''' |Multiple hormone resistance |- | colspan="2" |Blomstrand chondrodysplasia |Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance |'''↑''' |'''↓''' |'''↑''' |'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP |} | | colspan="2" rowspan="2" | ||
|'''Disorders''' | rowspan="2" | |||
|'''Mechanism of hypocalcemia''' | |||
| colspan="4" | |||
|'''Laboratory findings''' | |||
|- | |||
|Serum PTH | |||
|Serum Calcium | |||
|Serum Phosphate | |||
|Other findings | |||
|- | |||
| rowspan="2" | |||
|Acrodysostosis | |||
|Acrodysostosis type 1 | |||
|''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance | |||
|'''↑''' | |||
|'''↓''' | |||
|'''↑''' | |||
|Multiple hormone resistance | |||
|- |Acrodysostosis type 2 | |||
|[[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance | |||
|'''↑''' | |||
|'''↓''' | |||
|'''↑''' | |||
|Multiple hormone resistance | |||
|- | |||
| colspan="2" | |||
|Blomstrand chondrodysplasia | |||
|Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance | |||
|'''↑''' | |||
|'''↓''' | |||
|'''↑''' | |||
|'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP |} | |||
==References== | ==References== | ||
Revision as of 19:58, 3 October 2017
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Pseudohypoparathyroidism Microchapters |
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Differentiating Pseudohypoparathyroidism from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Pseudohypoparathyroidism differential diagnosis On the Web |
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American Roentgen Ray Society Images of Pseudohypoparathyroidism differential diagnosis |
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Risk calculators and risk factors for Pseudohypoparathyroidism differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Differentiating Pseudohypoparathyroidism from other Diseases
Diseases with similar symptoms
| colspan="2" rowspan="2" | rowspan="2" | Mechanism of hypocalcemia | colspan="4" | Laboratory findings | |||
| Serum PTH | Serum Calcium | Serum Phosphate | Other findings | ||||
| rowspan="2" | Acrodysostosis | Acrodysostosis type 1 | PRKAR1A germ-line mutation in the encoding gene resulting in parathyroid resistance | ↑ | ↓ | ↑ | Multiple hormone resistance |
| Phosphodiesterase 4D (PDE4D) gene mutation resulting in parathyroid resistance | ↑ | ↓ | ↑ | Multiple hormone resistance | |||
| colspan="2" | Blomstrand chondrodysplasia | Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance | ↑ | ↓ | ↑ | }
References |