Markedly elevated bone mineral density in genetically elusive familial hypocalciuric hypercalcemia: A case report with targeted genetic analysis of eight candidate genes.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 42006556.
- Also identified by DOI 10.1016/j.bonr.2026.101914 and PMC identifier 13090326.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
We report an 88-year-old Japanese woman with markedly elevated bone mineral density (lumbar spine 212% of young adult mean, Z-score + 10.0 SD) diagnosed with familial hypocalciuric hypercalcemia based on a urinary calcium-to-creatinine ratio of 0.06. Tergeted genetic testing of eight genes revealed no pathogenic variants; a <i>CASR</i> variant (c.1733-9A>G) was a common Japanese polymorphism (frequency 1/808). This genetically elusive case highlights the extreme skeletal phenotype in FHH and the essential role of population-specific databases in variant interpretation. ©The Authors. All rights reserved.