Frontiers in medicine · 2026
A case analysis of Gitelman syndrome complicated with Sjögren's disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Tang Yuqi, Tian Sen, Xia Cong, Zhang Yan, Dai Qiaoding
Аннотация
BACKGROUND: 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.
METHODS: 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.
RESULTS: Combined therapy with potassium supplementation and hydroxychloroquine successfully resolved symptoms and stabilized serum potassium levels.
CONCLUSION: 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.
METHODS: 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.
RESULTS: Combined therapy with potassium supplementation and hydroxychloroquine successfully resolved symptoms and stabilized serum potassium levels.
CONCLUSION: 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.