Matos Clara, Correia Fábio, da Silva Inês Nunes, Carola Sofia, Órfão Ana, Ferreira Maria, Branco Teresa
Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal.
Eur J Case Rep Intern Med. 2021 Jan 11;8(1):002182. doi: 10.12890/2021_002182. eCollection 2021.
Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement . We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy..
Gitelman syndrome is a rare cause of persistent hypokalaemia.A definitive diagnosis is determined by the identification of mutations in the SLC12A3 gene.Management consists of chronic potassium and magnesium supplementation aimed at symptom control.
吉特林综合征（GS）是一种遗传性肾小管病，由编码噻嗪类敏感的顶端钠氯共转运体的SLC12A3基因突变引起。GS的特征为低钾血症、低镁血症和代谢性碱中毒。治疗基于补充钾和镁。我们报告了一名患有心悸和持续性低钾血症的年轻男性病例，该患者被诊断为GS。基因检测发现SLC12A3基因存在2个复合杂合突变，均被认为是病理性的。有趣的是，这些突变中有1个在文献或所查阅的数据库中尚未被描述。我们还讨论了针对这种罕见遗传性肾小管病的临床处理方法和特点。
吉特林综合征是持续性低钾血症的罕见病因。通过鉴定SLC12A3基因中的突变来明确诊断。管理措施包括长期补充钾和镁以控制症状。
