DOI: 10.12890/2021_002182

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

Authors

  • 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

m_inesilva@hotmail.com

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 (2021)

How to Cite

1.
Novais de Matos MC, Correia F, Silva MI, Carola S, Órfão A, Ferreira M, et al. Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation . EJCRIM [Internet]. 2021 Jan. 11 [cited 2026 Nov. 3];8(1). Available from: https://ejcrim.com/index.php/ejcrim/article/view/2182

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