Gitelman综合征合并干燥综合征的病例分析
A case analysis of Gitelman syndrome complicated with Sjögren's disease.
摘要(中文译文)
干燥综合征（一种自身免疫性外分泌腺病）与Gitelman综合征（一种由SLC12A3突变引起的常染色体隐性遗传性肾小管病）均表现为低钾血症。二者共存可显著增加鉴别诊断的复杂性。一名62岁女性因乏力、口干及难治性低钾血症就诊。免疫学检测（抗核抗体及抗着丝粒蛋白B抗体阳性）及唇腺活检确诊干燥综合征。然而，其严重低钾血症与单纯干燥综合征所致肾小管酸中毒程度不相称。基因分析发现SLC12A3复合杂合致病突变：c.1196G > A（p.Arg399His）和c.1732G > A（p.Val578Met），证实合并Gitelman综合征。补钾联合羟氯喹治疗成功缓解症状并稳定血清钾水平。对于干燥综合征合并难治性低钾血症的患者，应怀疑潜在的遗传性肾小管疾病。结合免疫学评估与基因检测对于确保准确诊断和优化管理至关重要。
Abstract
Sjögren's disease (an autoimmune exocrinopathy) and Gitelman syndrome (an autosomal recessive renal tubulopathy caused by SLC12A3 mutations) both manifest with hypokalemia. Their coexistence can significantly complicate differential diagnosis. A 62-years-old female presented with fatigue, dry mouth, and refractory hypokalemia. Immunological testing (positive antinuclear and anti-centromere protein B antibodies) and a labial gland biopsy confirmed Sjögren's disease. However, her severe hypokalemia was disproportionate to Sjögren's-induced renal tubular acidosis alone. Genetic analysis revealed compound heterozygous pathogenic mutations in SLC12A3: c.1196G > A (p.Arg399His) and c.1732G > A (p.Val578Met), confirming concurrent Gitelman syndrome. Combined therapy with potassium supplementation and hydroxychloroquine successfully resolved symptoms and stabilized serum potassium levels. In Sjögren's disease patients with refractory hypokalemia, underlying hereditary renal tubular disorders should be suspected. Combining immunological evaluation with genetic testing is crucial to ensure accurate diagnosis and optimize management.
如何引用
AMA
Yuqi Tang, Sen Tian, Cong Xia, Yan Zhang, Qiaoding Dai. A case analysis of Gitelman syndrome complicated with Sjögren's disease.. Frontiers in medicine. 2026; doi:10.3389/fmed.2026.1842176.
APA
Yuqi Tang, Sen Tian, Cong Xia, Yan Zhang, Qiaoding Dai (2026). A case analysis of Gitelman syndrome complicated with Sjögren's disease.. Frontiers in medicine. https://doi.org/10.3389/fmed.2026.1842176
GB/T 7714
Yuqi Tang, Sen Tian, Cong Xia, Yan Zhang, Qiaoding Dai. A case analysis of Gitelman syndrome complicated with Sjögren's disease.[J]. Frontiers in medicine, 2026 doi:10.3389/fmed.2026.1842176.
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