A case analysis of Gitelman syndrome1 complicated with Sjögren’s disease

The case involves a 62-year-old female presenting with fatigue, dry mouth, and refractory hypokalemia (low potassium levels in blood). Immunological tests and labial gland biopsy confirmed Sjögren's disease, an autoimmune disorder. However, genetic testing revealed that the patient also had Gitelman syndrome, a hereditary kidney disorder caused by SLC12A3 gene mutations. This combination explained her severe hypokalemia, which was greater than would be caused by Sjögren's disease alone. The patient was successfully treated with a combination of potassium supplementation and hydroxychloroquine, which stabilized potassium levels and alleviated symptoms. The case emphasizes the importance of suspecting hereditary kidney disorders in Sjögren's disease patients with refractory hypokalemia.