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Updated: Aug 4, 2026
10:24
Cytosolic Calcium Measurements in Renal Epithelial Cells by Flow Cytometry
Published on: October 28, 2014
Diseases associated with the extracellular calcium-sensing receptor
1Nuffield Department of Clinical Medicine, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Headington, Oxford OX3 7LD, UK. rajesh.thakker@ndm.ox.ac.uk
Cell Calcium
|June 18, 2004
Summary
The calcium-sensing receptor (CaSR) regulates calcium levels. CaSR gene mutations cause hypercalcemic and hypocalcemic disorders, including familial benign hypercalciuria and autosomal dominant hypocalcemia.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- The human calcium-sensing receptor (CaSR) is a G protein-coupled receptor regulating calcium homeostasis.
- CaSR is primarily expressed in parathyroid glands and kidneys, controlling parathyroid hormone secretion and calcium reabsorption.
Purpose of the Study:
- To investigate the role of CaSR gene mutations in calcium-related disorders.
- To explore the genetic heterogeneity of familial benign hypercalciuria (FHH).
Main Methods:
- Analysis of CaSR gene mutations in patients with hypercalcemic and hypocalcemic disorders.
- Genetic linkage studies to identify causative genes for different FHH types.
Main Results:
- Loss-of-function CaSR mutations are linked to familial benign hypercalciuria (FHH) and neonatal severe primary hyperparathyroidism (NSHPT).
- Gain-of-function CaSR mutations cause autosomal dominant hypocalcemia with hypercalciuria (ADHH) and Bartter's syndrome type V.
- FHH exhibits genetic heterogeneity, with mutations identified on chromosomes 3q21.1 (FHH type 1), 19p13 (FHH type 2), and 19q13 (FHH type 3).
- CaSR auto-antibodies are implicated in acquired hypoparathyroidism and some FHH cases without CaSR mutations.
Conclusions:
- CaSR abnormalities are associated with six distinct disorders: three hypercalcemic and three hypocalcemic.
- Understanding CaSR mutations is crucial for diagnosing and managing these calcium metabolism disorders.
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