Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal
Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal.
BMJ Case Rep. 2021 Jan 18;14(1):e238097. doi: 10.1136/bcr-2020-238097.
Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1-10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood. The disease is caused by mutations in the SLC12A3 gene. We present the case of a 49-year-old man referred to a nephrology appointment due to persistent hypokalaemia and hypomagnesaemia. Complementary evaluation revealed hypokalaemia, hypomagnesaemia, metabolic alkalosis, hyperreninaemia, increased chloride and sodium urinary excretion, and reduced urinary calcium excretion. Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of GS was established and confirmed with genetic testing which revealed a novel mutation in SLC12A3 (c.1072del, p.(Ala358Profs*12)). This novel mutation extends the spectrum of known SLC12A3 gene mutations and further supports the allelic heterogeneity of GS.
Gitelman 综合征（GS）是一种常染色体隐性遗传病，其特征为低钾代谢性碱中毒伴低镁血症和低钙尿症。这种疾病的患病率为 1-10/40000。GS 通常与轻度和非特异性症状相关，许多患者直到成年后才被诊断。该疾病由 SLC12A3 基因突变引起。我们报告了 1 例 49 岁男性病例，因持续性低钾血症和低镁血症就诊于肾病科。补充评估显示低钾血症、低镁血症、代谢性碱中毒、高肾素血症、氯离子和钠离子尿排泄增加以及尿钙排泄减少。肾功能、其余血清和尿离子图谱以及肾脏超声均正常。诊断为 GS，并通过基因检测证实，SLC12A3 基因存在新的突变（c.1072del，p.（Ala358Profs*12））。这种新的突变扩展了已知 SLC12A3 基因突变谱，并进一步支持 GS 的等位基因异质性。
