류마티스관절염 환자에 동반된 Gitelman 증후군

Gitelman syndrome is a condition caused by a mutation of the thiazide sensitive Na-Cl cotransporter gene on the distal convoluted tubule. It results in a variety of clinical features, including hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. It is often diagnosed in asymptomatic...

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Bibliographic Details
Published inYeungnam University Journal of Medicine Vol. 34; no. 1; pp. 101 - 105
Main Authors 박민기, 이지현, 김성준, 박수호, 박석기, 최준설, 황지연, Park, Min Gi, Lee, Ji Hyun, Kim, Sung Jun, Park, Su Ho, Park, Suk Ki, Choi, Joon Sul, Hwang, Ji Yeon
Format Journal Article
LanguageKorean
Published 2017
Subjects
Gitelman syndrome
Rheumatoid arthritis
Genetic testing
Thiazides
Furosemide
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Summary:Gitelman syndrome is a condition caused by a mutation of the thiazide sensitive Na-Cl cotransporter gene on the distal convoluted tubule. It results in a variety of clinical features, including hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. It is often diagnosed in asymptomatic adults presented with unexplained hypokalemia; however, it is sometimes associated with muscular cramps, numbness, fatigue, weakness, or paralysis. We experienced a case of rheumatoid arthritis accompanied by Gitelman syndrome, presented with hand tremor. We diagnosed her using renal clearance study and genetic analysis. Here, we report our experiences regarding this case along with a literature review.
Bibliography:KISTI1.1003/JNL.JAKO201722647667070
ISSN:1225-7737
2384-0293