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

Gitelman's Syndrome Associated with Chondrocalcinosis

• Song ST
• Lim YJ
• Park JS
• Song Y
• Lee S
• Choi J
• Jun JB

• KMID: 2352471
• DOI: http://doi.org/10.4078/jrd.2016.23.4.266

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

Figure

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  Figure 1. A 12-lead electrocardiogram (ECG) from a 27-year-old woman with hypokalemia. ECG demonstrates flatten T-waves, depressed ST-segment changes, and prominent U waves.

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  Figure 2. Chondrocalcinosis in radiographies of the patient's knees (A). Arrows show amorphous radiopaque densities along both medial and lateral menisci. Ultrasonographic examination of right 1st metatarsophalangeal joint (B) showed no evidence of crystal deposition like double contour sign.

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