背景:Gitelman综合征(GS)是一种罕见的常染色体隐性遗传性失盐肾小管病,通常没有高钙血症。在这里,我们描述了1例GS患者出现高钙血症并伴有原发性甲状旁腺功能亢进(PHPT).
方法:2020年9月28日,我院收治1例中年女性患者,有12年低钾血症和低镁血症病史。实验室检查揭示了低钾血症伴肾脏钾消耗,低镁血症,代谢性碱中毒,低尿钙,基因测序显示SLC12A3中存在纯合突变(c.179C>T[p。T60M])。随后,诊断为GS。此外,患者出现高钙血症和甲状旁腺激素水平升高.甲状旁腺超声显示左侧甲状旁腺增生,与PHPT一致。在用氯化钾和氧化镁进行积极治疗后,她的血清钾上升到3.23mmol/L,血清镁为0.29mmol/L,关节疼痛缓解了.
结果:根据患者的病史,实验室发现,和基因测序结果,明确诊断为GS合并PHPT.
结论:当GS患者出现高钙血症时,应考虑PHPT。虽然血清钾水平容易超过目标阈值,纠正低镁血症被证明具有挑战性,主要是因为PHPT增加尿镁排泄。
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessive inherited salt-losing tubulopathy, typically devoid of hypercalcemia. Herein, we described one patient of GS presenting with hypercalcemia concomitant with primary hyperparathyroidism (PHPT).
METHODS: On September 28, 2020, a middle-aged female patient was admitted to our hospital with a 12-year history of
hypokalemia and hypomagnesemia. Laboratory examinations unveiled
hypokalemia with renal potassium wasting, hypomagnesemia, metabolic alkalosis, hypocalciuria, and gene sequencing revealed a homozygous mutation in SLC12A3 (c.179C > T [p.T60M]). Subsequently, the diagnosis of GS was confirmed. In addition, the patient exhibited hypercalcemia and elevated levels of parathyroid hormone. Parathyroid ultrasound revealed left parathyroid hyperplasia, consistent with PHPT. Following aggressive treatment with potassium chloride and magnesium oxide, her serum potassium rose to 3.23 mmol/L, serum magnesium was 0.29 mmol/L, and her joint pain was relieved.
RESULTS: Based on the patient\'s medical history, laboratory findings, and gene sequencing results, the definitive diagnosis was GS concomitant with PHPT.
CONCLUSIONS: PHPT should be taken into consideration when patients diagnosed with GS exhibit hypercalcemia. While the serum potassium level readily exceeded the target threshold, correcting hypomagnesemia proved challenging, primarily because PHPT augments urinary magnesium excretion.