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

Yu Li1, Yun Lu1, Yue Wang1

  • 1Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China.

Frontiers in Immunology
|April 10, 2026
PubMed
Summary

This case study details a rare Chinese Gitelman syndrome (GS) diagnosis in a female patient with inflammatory symptoms. Genetic testing confirmed GS, highlighting diagnostic challenges with overlapping renal and inflammatory features.

Keywords:
Gitelman syndrome (GS)MEFV variantautoinflammatory phenotypediagnostic challengesgenetic diagnosis act

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