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, cilt.117, sa.2, ss.69-71, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 117 Sayı: 2
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1055/s-2008-1078705
  • Dergi Adı: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.69-71
  • Anahtar Kelimeler: potassium, muscle weakness, hypocalciuria, Gitelman's syndrome, RHABDOMYOLYSIS, BARTTERS, GENE
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.