Puthenkote Baiju Faizal, Jadhav Monica, Surapaneni Sahithi, Yadav Yogesh, Manaf Abdul
Internal Medicine, Lifecare Hospital Musaffah, Abu Dhabi, ARE.
Research and Health Innovation, Lifecare Hospital Musaffah, Abu Dhabi, ARE.
Cureus. 2025 Jul 13;17(7):e87840. doi: 10.7759/cureus.87840. eCollection 2025 Jul.
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy caused by mutations in the gene, leading to hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. We present a case series of two patients with GS, both presenting with seizures, a rare manifestation, alongside distinct atypical features. Case 1, a 35-year-old male, exhibited tetanic spasm, hypocalcemia, secondary hyperparathyroidism, and basal ganglia calcification. Case 2, a 55-year-old male with a history of coronary artery disease, presented with seizure, hypomagnesemia, and hyponatremia. These cases highlight the clinical heterogeneity of GS, emphasizing the importance of considering atypical presentations and their implications for diagnosis and management.
吉特曼综合征（GS）是一种罕见的常染色体隐性遗传性失盐性肾小管病，由该基因的突变引起，导致低钾血症、低镁血症、低钙尿症和代谢性碱中毒。我们报告了一系列两例GS患者的病例，这两名患者均表现出癫痫发作这一罕见症状，同时伴有不同的非典型特征。病例1为一名35岁男性，表现出手足搐搦性痉挛、低钙血症、继发性甲状旁腺功能亢进和基底节钙化。病例2为一名55岁男性，有冠状动脉疾病史，表现为癫痫发作、低镁血症和低钠血症。这些病例突出了GS的临床异质性，强调了考虑非典型表现及其对诊断和管理的意义的重要性。
