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="2" rowspan="2" | {| class="wikitable" | ||
|'''Disorders''' | rowspan="2" | | colspan="2" rowspan="2" |'''Disorders''' | ||
|'''Mechanism of hypocalcemia''' | | rowspan="2" |'''Mechanism of hypocalcemia''' | ||
| colspan="4" | | colspan="4" |'''Laboratory findings''' | ||
|'''Laboratory findings''' | |||
|- | |- | ||
|Serum PTH | |Serum PTH | ||
| Line 23: | Line 22: | ||
|Other findings | |Other findings | ||
|- | |- | ||
| rowspan="2" | | rowspan="2" |Acrodysostosis | ||
|Acrodysostosis | |||
|Acrodysostosis type 1 | |Acrodysostosis type 1 | ||
|''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance | |''PRKAR1A'' germ-line mutation in the encoding gene resulting in parathyroid resistance | ||
| Line 31: | Line 29: | ||
|'''↑''' | |'''↑''' | ||
|Multiple hormone resistance | |Multiple hormone resistance | ||
|- |Acrodysostosis type 2 | |- | ||
|Acrodysostosis type 2 | |||
|[[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance | |[[Phosphodiesterase]] 4D (PDE4D) gene mutation resulting in parathyroid resistance | ||
|'''↑''' | |'''↑''' | ||
| Line 38: | Line 37: | ||
|Multiple hormone resistance | |Multiple hormone resistance | ||
|- | |- | ||
| colspan="2" | | colspan="2" |Blomstrand chondrodysplasia | ||
|Blomstrand chondrodysplasia | |||
|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 | ||
|'''↑''' | |'''↑''' | ||
|'''↓''' | |'''↓''' | ||
|'''↑''' | |'''↑''' | ||
|'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP |} | |'''↓''' Urinary Phosphate, '''↑''' Urinary cAMP | ||
|} | |||
==References== | ==References== | ||
Revision as of 20:04, 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
| Disorders | Mechanism of hypocalcemia | Laboratory findings | ||||
| Serum PTH | Serum Calcium | Serum Phosphate | Other findings | |||
| 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 | |
| Blomstrand chondrodysplasia | Homozygous or heterozygous mutations in both alleles encoding the type 1 parathyroid hormone receptor resulting in parathyroid resistance | ↑ | ↓ | ↑ | ↓ Urinary Phosphate, ↑ Urinary cAMP | |