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Revista médica de Chile · Mar 2024
Case Reports[First Report of a Family with Familial Hypocalciuric Hypercalcemia in Chile: Differential Diagnosis in a Patient with PTH-Dependent Hypercalcemia Post-Parathyroidectomy].
- Francisco Valenzuela R and Gilberto González V.
- Departamento de Endocrinología, Pontificia Universidad Católica de Chile, Chile.
- Rev Med Chil. 2024 Mar 1; 152 (3): 407412407-412.
AbstractWe report a 45-year-old woman with persistent post-parathyroidectomy PTH-dependent asymptomatic hypercalcemia who, after evaluation in our bone clinic, was diagnosed as having familial hypocalciuric hypercalcemia based on concomitant hypocalciuria and a family history of asymptomatic hypercalcemia. Genetic study shows a variant of uncertain significance in the CASR gene. To our knowledge, this is the first report on a Chilean family with HHF.
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