Clinical Report: Analysis of a Gitelman Syndrome Case Complicated by Sjögren’s Disease

Background

Gitelman syndrome and Sjögren’s disease both present with hypokalemia, complicating differential diagnosis.

Data Highlights

No numerical or trial data provided in the article.

Key Findings

• A 62-year-old female presented with refractory hypokalemia and dry mouth.
• Immunological testing confirmed Sjögren’s disease with positive antinuclear and anti-centromere antibodies.
• Genetic analysis revealed compound heterozygous mutations in SLC12A3, confirming Gitelman syndrome.
• Combined therapy with potassium supplementation and hydroxychloroquine resolved symptoms and stabilized potassium levels.
• Underlying hereditary renal tubular disorders should be suspected in Sjögren’s patients with refractory hypokalemia.

Clinical Implications

Clinicians should consider genetic testing in patients with refractory hypokalemia, particularly when autoimmune conditions like Sjögren’s disease are present. Accurate diagnosis can lead to optimized management strategies.

Conclusion

The coexistence of Gitelman syndrome and Sjögren’s disease underscores the need for comprehensive evaluation in patients with refractory hypokalemia. This case illustrates the importance of integrating immunological and genetic assessments in clinical practice.

Related Resources & Content

1. Frontiers in Immunology, 2026 -- Genetic variants associated with Sjögren’s disease subtypes stratified by clinical feature
2. Contact Lens Spectrum, July 2021 -- THE SJOGREN'S PARADOX
3. Clinical Rheumatology, 2025 -- Comprehensive Evaluation of Juvenile Sjögren's Disease
4. British Society for Rheumatology guideline on management of adult and juvenile onset Sjögren disease - PMC
5. Contact Lens Spectrum — Identifying Sjogren's Syndrome
6. British Society for Rheumatology guideline on management of adult and juvenile onset Sjögren disease - PMC
7. Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome - ePrints - Newcastle University
8. Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease - Deboo - Arthritis Care & Research - Wiley Online Library