Chonnam Med J.  2001 Sep;37(3):299-303.

A Case of Gitelman's Syndrome

Affiliations
  • 1Department of Internal Medicine, National Police Hospital, Seoul, Korea.

Abstract

Patients with Gitelman's syndrome present a variety of clinical features, such as hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, mostly in their adulthood or adolescence. Their ability to concentrate urine is normal to mildly reduced and glomerular filtration rate is within normal range. Pathophysiologically, mutation of the thiazide-sensitive Na-Cl CO transporter gene on distal renal tubule is the cause of the syndrome. Most of the patients with Gitelman's syndrome are asymptomatic or present mild clinical features such as, transient muscle weakness and tetany. We present a case of a patient with review of relevant references, whose initial complaint was paresthesia of hand and feet. He was found upon evaluation to have hypocalciuria and hypomagnesemia similar to Bartter's syndrome and was finally diagnosed of having Gitelman's syndrome.

Keyword

Bartter's disease; Hypokalemia

MeSH Terms

Adolescent
Alkalosis
Bartter Syndrome
Foot
Gitelman Syndrome*
Glomerular Filtration Rate
Hand
Humans
Hypokalemia
Kidney Tubules, Distal
Muscle Weakness
Paresthesia
Reference Values
Tetany
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