Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation

  • Clara Matos Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Fábio Correia Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Maria Inês Silva Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Sofia Carola Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Ana Órfão Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Maria Ferreira Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Maria Teresa Branco Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal

Keywords

Gitelman syndrome, hypokalaemia, hereditary renal tubulopathy, SLC12A3 mutations

Abstract

Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement ad eternum. We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.

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References

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  • Published: 2021-01-11

    Issue: Vol 8 No 1 (view)

    Section: Articles

    How to cite:
    1.
    Novais de Matos MC, Correia F, Silva MI, Carola S, Órfão A, Ferreira M, Branco MT. Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation . EJCRIM 2021;8 doi:10.12890/2021_002182.

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