A case of Gitelman's syndrome presenting with extreme hypokalaemia and paralysis.
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.
Akinci
B
B
Division of Endocrinology and Metabolism, Dokuz Eylul University Medical School, Izmir, Turkey. baris.akinci@deu.edu.tr
Celik
A
A
Saygili
F
F
Yesil
S
S
D000293:Adolescent; D053579:Gitelman Syndrome / Q000097:blood* / Q000150:complications*; D006801:Humans; D007008:Hypokalemia / Q000097:blood* / Q000150:complications*; D008297:Male; D010243:Paralysis / Q000097:blood* / Q000150:complications*