Peer-reviewed veterinary case report
Dog with high blood calcium linked to new gene variant
By Woerde, Dennis J et al.·Published in Journal of veterinary internal medicine·2026·Department of Veterinary Medicine and Epidemiology, United States·View original on PubMed →
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Original publication title: A novel missense variant in the calcium-sensing receptor gene in a dog with hypercalcemia.
- Species:
- dog
Plain-English summary
A 5-year-old female spayed Border Collie cross was brought in for high calcium levels in her blood that had been a problem for three years. Despite thorough testing, including imaging and surgery to remove a parathyroid gland, her condition didn't improve. The dog's urine showed low calcium levels, which is unusual for someone with high blood calcium, suggesting a genetic issue. Genetic testing revealed a mutation in the calcium-sensing receptor gene, which is likely causing her hypercalcemia. This case highlights the importance of considering genetic factors in young dogs with persistent high calcium levels.
People also search for: dog high calcium levels treatment · Border Collie hypercalcemia · calcium-sensing receptor mutation in dogs
Abstract
A 5-year-old female spayed Border Collie cross was evaluated for a 3-year history of hypercalcemia. Abnormalities were not detected on physical examination. Parathyroid hormone (PTH) concentration was at the upper end of the reference interval, but diagnostic imaging did not identify any enlarged or ectopic parathyroid tissue. Hypercalcemia failed to resolve with unilateral parathyroidectomy, or administration of bisphosphonates, and calcimimetics. Despite hypercalcemia, urine calcium excretion was inappropriately low, consistent with Familial Hypocalciuric Hypercalcemia described in humans with calcium sensing receptor gene (CASR) mutations. Exonic sequencing of CASR of this dog revealed homozygosity for a missense variant (Glu649Lys, NP_001074978.1) with predicted pathogenicity. The variant was not present in whole genome sequencing variant calls from 2,782 dogs, including 43 Border Collies. This report identifies a CASR variant as the likely cause of hypercalcemia in this dog. Clinical suspicion for a CASR variant should occur when younger dogs present for persistent hypercalcemia, inappropriate normocalciuria, and elevated PTH concentration.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/41742529/