Gitelman's Syndrome Associated with Chondrocalcinosis.
10.4078/jrd.2016.23.4.266
- Author:
Seung Taek SONG
1
;
Yu Jeong LIM
;
Joon Sung PARK
;
Yoonah SONG
;
Seunghun LEE
;
Jeongim CHOI
;
Jae Bum JUN
Author Information
1. Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea. junjb@hanyang.ac.kr
- Publication Type:Case Report
- Keywords:
Gitelman syndrome;
Chondrocalcinosis;
Hypokalemia;
Alkalosis
- MeSH:
Adult;
Alkalosis;
Arthritis;
Chondrocalcinosis*;
Early Diagnosis;
Female;
Genetic Diseases, Inborn;
Gitelman Syndrome*;
Humans;
Hypokalemia;
Knee;
Korea;
Magnesium;
Metatarsophalangeal Joint;
Potassium;
Spironolactone;
Vomiting
- From:Journal of Rheumatic Diseases
2016;23(4):266-270
- CountryRepublic of Korea
- Language:English
-
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.