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Table 1 Main diseases related to CaSR anomalies

From: Diseases associated with calcium-sensing receptor

Hypocalciuric hypercalcaemia syndromes:
- Genetic via inactivating mutations of the CASR gene
o heterozygous (familial benign hypercalcaemia),
NB: Serum calcium levels of the variants A986S, R990G and Q1011E slightly higher than in the general population
o homozygous, compound heterozygous (severe neonatal hyperparathyroidism)
- Acquired via anti-CaSR blocking antibodies (rare)
Hypercalciuric hypocalcaemia syndrome, more rare,
- Genetic via heterozygous activating mutations of the CASR gene
o autosomal dominant
o sometimes with presentation of pseudo-Bartter’s syndrome
- Acquired via anti-CaSR stimulating antibodies
Other disorders
- Hypercalciuria - lithiases R990G variant of CaSR
- Cancers: tumor suppressor or oncogenic (colon, breast, prostate, neuroblastoma, etc.)
- Metabolic syndrome
- Hypergastrinaemia
- Inflammatory digestive and respiratory diseases
- Taste (kokumi)