A Case of Gitelman's Syndrome Presenting with Extreme Hypokalaemia and Paralysis


AKINCI B., Celik A., Saygili F., Yesil S.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, vol.117, no.2, pp.69-71, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 117 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1055/s-2008-1078705
  • Journal Name: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.69-71
  • Keywords: potassium, muscle weakness, hypocalciuria, Gitelman's syndrome, RHABDOMYOLYSIS, BARTTERS, GENE
  • Dokuz Eylül University Affiliated: Yes

Abstract

Gitelman's syndrome is an autosomal recessive disorder caused by various mutations of the thiazide- sensitive sodium chloride cotransporter gene. Hypokalaemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria are major clinical features of the syndrome. The onset of the disease is in early adulthood with a mild muscle weakness complaint or incidentally diagnosed hypokalaemia by blood test. However, it has a significant impact on quality of life of patients. Rarely, patients with Gitelman's syndrome may present with hypokalaemic paralysis. Profound hypokalaemia is uncommon in Gitelman's syndrome. Here we report a case of Gitelman's syndrome, who presented with hypokalaemic paralysis and extreme hypokalaemia. To the best of our knowledge, after a Medline search, this is the most severe hypokalaemia described in a patient with Gitelman's syndrome.