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Related Experiment Video

Updated: Mar 8, 2026

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Diseases associated with calcium-sensing receptor.

C Vahe1, K Benomar1, S Espiard1

  • 1Service d'Endocrinologie et Métabolisme, Hôpital C Huriez Centre Hospitalo-universitaire de Lille, 1 rue Polonovski, 59 037, Lille Cedex, France.

Orphanet Journal of Rare Diseases
|January 27, 2017
PubMed
Summary

The calcium-sensing receptor (CaSR) regulates calcium levels. Genetic or acquired CaSR abnormalities cause hyper- or hypocalcemia, impacting various diseases and offering new therapeutic targets with CaSR modulators.

Keywords:
CASRCalcilyticsCalcimimeticsHypercalcaemiaHypercalciuriaHyperparathyroidismHypocalcemiaHypocalciuriaHypoparathyroidism

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Area of Science:

  • Endocrinology and Genetics
  • Calcium Metabolism Regulation

Background:

  • The calcium-sensing receptor (CaSR) is crucial for calcium homeostasis, controlling parathyroid hormone secretion and urinary calcium excretion.
  • CaSR dysfunction leads to genetic or acquired disorders, including hypercalcemia and hypocalcemia.

Purpose of the Study:

  • To review the role of the CaSR in calcium metabolism and associated diseases.
  • To explore the diagnostic challenges and therapeutic potential of CaSR modulators.

Main Methods:

  • Literature review of CaSR gene mutations and their clinical manifestations.
  • Analysis of differential diagnoses for CaSR-related disorders.
  • Overview of CaSR modulators (agonists and antagonists) and their applications.

Main Results:

  • Inactivating CaSR mutations cause hypercalcemia (familial benign hypercalcemia, severe neonatal hyperparathyroidism), while activating mutations cause hypocalcemia.
  • Specific CASR variants (A986S, R990G, Q1011E) are linked to elevated serum calcium.
  • Acquired CaSR disorders can result from anti-CaSR antibodies, and CaSR is implicated in other diseases, with emerging therapeutic strategies.

Conclusions:

  • CaSR plays a central role in calcium balance, with mutations leading to significant clinical disorders.
  • Accurate differential diagnosis is essential for managing CaSR-related conditions.
  • CaSR modulators offer promising therapeutic avenues for various calcium metabolism disorders.