Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case.

Abstract excerpt

We report a rare case of genetically confirmed Gitelman syndrome (GS) in a Chinese female patient presenting with systemic inflammatory manifestations and a heterozygous MEFV variant of uncertain significance. The patient initially exhibited arthritis, elevated inflammatory markers, and a positive labial gland biopsy, raising suspicion for Sjögren's syndrome. However, absence of sicca symptoms and failure to meet...

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