Division of Nephrology, Department of Internal Medicine, Changhua Christian Hospital, Changhua, Taiwan.
Ren Fail. 2012;34(2):241-3. doi: 10.3109/0886022X.2011.647207.
We reported a case of a 41-year-old woman who had been diagnosed with Gitelman's syndrome since the age of 31 years. The diagnosis was established by the typical biochemical pictures including renal wasting hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. She had normal blood pressure and had never used diuretics. She had a sibling with similar syndrome. The patient was treated with oral potassium and magnesium supplementation. She began to have hypercalcemia at the age of 39 years. The diagnostic approach to hypercalcemia became more complicated because of normal parathyroid hormone levels and underlying hypocalciuria due to Gitelman's syndrome. Thorough evaluation eventually identified primary hyperparathyroidism as the cause of hypercalcemia. To our best knowledge, this is the first report of combined occurrence of Gitelman's syndrome and primary hyperparathyroidism in the literature.
我们报告了一例 41 岁女性患者，她自 31 岁起被诊断为 Gitelman 综合征。该诊断通过典型的生化特征确立，包括肾性失钾性低钾血症、低镁血症、低钙尿症、代谢性碱中毒和肾素血管紧张素醛固酮系统亢进。她血压正常，从未使用过利尿剂。她有一个患有类似综合征的兄弟姐妹。患者接受了口服钾和镁补充治疗。她在 39 岁时开始出现高钙血症。由于 Gitelman 综合征导致的甲状旁腺激素水平正常和潜在的低钙尿症，高钙血症的诊断方法变得更加复杂。彻底的评估最终确定原发性甲状旁腺功能亢进症是高钙血症的原因。据我们所知，这是文献中首例 Gitelman 综合征和原发性甲状旁腺功能亢进症合并发生的报告。
