First Report of a Family with Familial Hypocalciuric Hypercalcemia in Chile: Differential Diagnosis in a Patient with PTH-Dependent Hypercalcemia Post-Parathyroidectomy

被引：0

作者：

Valenzuela, R. Francisco ^{[1
]}

Gonzalez, V. Gilberto ^{[1
,2
]}

机构：

[1] Pontificia Univ Catolica Chile, Escuela Med, Dept Endocrinol, Diagonal Paraguay 362,4 Piso, Santiago, Chile

[2] Pontificia Univ Catolica Chile, Escuela Med, Ctr Traslac Endocrinol, Santiago, Chile

来源：

REVISTA MEDICA DE CHILE | 2024年 / 152卷 / 03期

关键词：

Familial hypocalciuric hypercalcemia; Hypercalcemia; human CaSR protein; PRIMARY HYPERPARATHYROIDISM; CALCIUM;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We 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.

引用

页码：407 / 412

页数：6

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