J Rheum Dis.  2016 Aug;23(4):266-270. 10.4078/jrd.2016.23.4.266.

Gitelman's Syndrome Associated with Chondrocalcinosis

Affiliations
  • 1Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea. junjb@hanyang.ac.kr
  • 2Division of Nephrology, Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
  • 3Department of Radiology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
  • 4Department of Rheumatology, Hanyang University Medical Center, Hanmaeum Changwon Hospital, Changwon, Korea.

Abstract

Gitelman's syndrome (GS), a hereditary disease characterized by hypokalemia, hypomagnesemia, and hypocalciuria, is a salt-losing renal tubulopathy. Herein, we describe a case of a 28-year-old woman diagnosed with atypical GS accompanying chondrocalcinosis. One year ago, she presented with vomiting, hypokalemic metabolic alkalosis, and hypocalciuria, and was tested by diuretic challenge test. As a result, she was diagnosed with atypical GS with normomagnesemia and treated with spironolactone and potassium supplementation. Meanwhile, acute arthritis of the right 1st metatarsophalangeal joint occurred. On the radiographies of the knees, chondrocalcinosis was observed. To the best of our knowledge, this is the first report in Korea of GS with chondrocalcinosis. Antialdosterone therapy or magnesium supplementation is effective in preventing the progression of chondrocalcinosis; thus, early diagnosis and treatment of GS are important.

Keyword

Gitelman syndrome; Chondrocalcinosis; Hypokalemia; Alkalosis

MeSH Terms

Adult
Alkalosis
Arthritis
Chondrocalcinosis*
Early Diagnosis
Female
Genetic Diseases, Inborn
Gitelman Syndrome*
Humans
Hypokalemia
Knee
Korea
Magnesium
Metatarsophalangeal Joint
Potassium
Spironolactone
Vomiting
Magnesium
Potassium
Spironolactone
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