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Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene
J Rodríguez-Soriano1, A Vallo, M J Quintela
1Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, País Vasco, Spain. jrs00014@teleline.es
Insights
This study investigates a familial case of persistent hypercalcemia and hypercalciuria. Despite normal parathyroid hormone (PTH) levels, the calcium-sensing receptor (CaR) gene showed no mutations, suggesting a functional CaR abnormality.
Area of Science:
- Nephrology
- Endocrinology
- Human Genetics
Background:
- Familial hypercalcemia and hypercalciuria are conditions characterized by elevated calcium levels in the blood and urine.
- Persistent hypercalcemia and hypercalciuria can lead to serious complications like nephrocalcinosis.
Observation:
- A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria, and nephrocalcinosis since infancy.
- His father, aged 40, exhibited similar symptoms of hypercalcemia and hypercalciuria.
- Serum intact parathyroid hormone (PTH) levels were normal in both affected individuals.
Findings:
- The clinical presentation suggested a potential functional abnormality of the calcium-sensing receptor (CaR).
- Genetic analysis revealed no mutations in the coding regions of the CaR gene in the affected individuals.
- This indicates a possible non-coding region mutation or other regulatory mechanism affecting CaR function.
Implications:
- This case highlights the complexity of calcium homeostasis disorders.
- It suggests that functional CaR abnormalities, even without detectable coding mutations, can cause significant clinical manifestations.
- Further research into CaR gene regulation and non-coding variants is warranted for improved diagnosis and management of familial hypercalcemia.
Abstract:
A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria and nephrocalcinosis from early infancy. His 40-year-old father also had hypercalcemia and hypercalciuria. In both individuals serum values of intact parathyroid hormone (PTH) were repeatedly normal. Although these findings suggest a functional abnormality of the calcium-sensing receptor (CaR), no mutations in coding regions of the CaR gene could be demonstrated.