Pseudohypoparathyroidism differential diagnosis: Difference between revisions

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Diseases with similar symptoms
Diseases with similar symptoms
:*[[Hypoparathyroidism (patient information)|Hypoparathyroidism]]
:*[[Hypoparathyroidism (patient information)|Hypoparathyroidism]]
:*[[Rickets (patient information)|Rickets]]
:*[[Rickets (patient information)|Rickets]] {| 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 |}


==References==
==References==

Revision as of 19:42, 3 October 2017

Pseudohypoparathyroidism Microchapters

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Overview

Differentiating Pseudohypoparathyroidism from other Diseases

Diseases with similar symptoms

  • Hypoparathyroidism
  • Rickets {| 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 |}

References


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