Ma Fuhui, Wusiman Reziwanguli, Ma Rui, Wang Xinling, Zhang Kaidi, Guo Yanying
Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, 91 Tianchi Road, Urumqi, Xinjiang, 830001, China.
Xinjiang Medical University, Urumqi, Xinjiang, 830000, China.
BMC Nephrol. 2025 Mar 26;26(1):153. doi: 10.1186/s12882-025-04075-6.
We report a Gitelman syndrome (GS) pedigree from a Chinese family. The proband, a middle-aged man, presented with hypokalemia, hypomagnesemia, and unilateral limb paralysis. After a comprehensive evaluation, peripheral neuropathy and the cranial or spinal cord disorders were ruled out. Genetic testing identified a homozygous c.1964G > A variant in the SLC12A3 gene. Despite potassium and magnesium supplementation, the patient's clinical symptoms persisted. Additionally, 13 heterozygous family members, including his parents, showed no typical GS manifestations. However, the proband's two brothers, who also carried the same homozygous mutation and exhibited hypokalemia and hypomagnesemia, did not develop unilateral limb paralysis. This case suggests that the c.1964G > A variant may be associated with a severe GS phenotype, including unilateral limb paralysis. Clinicians should be aware of the diagnostic challenges and therapeutic limitations in managing GS, particularly in patients with severe manifestations. Genetic testing is essential for accurate diagnosis, and ongoing monitoring and symptomatic management are critical to improving the quality of life for affected individuals.
我们报告了一个来自中国家庭的吉特曼综合征（GS）家系。先证者是一名中年男性，表现为低钾血症、低镁血症和单侧肢体麻痹。经过全面评估，排除了周围神经病变以及颅脑或脊髓疾病。基因检测在SLC12A3基因中发现了一个纯合的c.1964G＞A变异。尽管补充了钾和镁，患者的临床症状仍持续存在。此外，包括其父母在内的13名杂合家庭成员未表现出典型的GS症状。然而，先证者的两个兄弟也携带相同的纯合突变，表现为低钾血症和低镁血症，但未出现单侧肢体麻痹。该病例表明，c.1964G＞A变异可能与严重的GS表型相关，包括单侧肢体麻痹。临床医生应意识到在管理GS时的诊断挑战和治疗局限性，尤其是对于有严重表现的患者。基因检测对于准确诊断至关重要，持续监测和对症治疗对于提高受影响个体的生活质量至关重要。
