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Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria. 出现低钾代谢性碱中毒和低钙尿的假性吉特曼综合征。

Electrolyte and Blood Pressure Pub Date : 2023-12-01 Epub Date: 2023-12-18 DOI: 10.5049/EBP.2023.21.2.72

Seung Heon Lee, Sukyung Lee, Hyunsung Kim, Gheun-Ho Kim

{"title":"Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria.","authors":"Seung Heon Lee, Sukyung Lee, Hyunsung Kim, Gheun-Ho Kim","doi":"10.5049/EBP.2023.21.2.72","DOIUrl":"10.5049/EBP.2023.21.2.72","url":null,"abstract":"Pseudo-Bartter syndrome is a well-known differential diagnosis that needs to be excluded in cases of normotensive hypokalemic metabolic alkalosis. Pseudo-Bartter syndrome and pseudo-Gitelman syndrome are often collectively referred to as pseudo-Bartter/Gitelman syndrome; however, pseudo-Gitelman syndrome should be considered as a separate entity because Gitelman syndrome is characterized by hypocalciuria and hypomagnesemia, while Bartter syndrome is usually associated with hypercalciuria. Herein, we report the cases of two young adult female patients who presented with severe hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Diuretic or laxative abuse and self-induced vomiting were absent, and a chloride deficit and remarkable bicarbonaturia were observed. Initial sequencing studies for SLC12A3, CLCKNB, and KCNJ10 revealed no mutations, and whole-exome sequencing revealed no pathogenic variants. The metabolic alkalosis was saline-responsive in one case, and steroid therapy was necessary in the other to relieve chronic tubulointerstitial nephritis, which was diagnosed with kidney biopsy. A new category of pseudo-Gitelman syndrome should be defined, and various etiologies should be investigated.","PeriodicalId":35352,"journal":{"name":"Electrolyte and Blood Pressure","volume":"21 2","pages":"72-76"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10751206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139049452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Spinning-induced Rhabdomyolysis: Eleven Case Reports and Review of the Literature. 旋转诱发横纹肌溶解症：11例病例报告及文献复习。

Electrolyte and Blood Pressure Pub Date : 2015-12-01 Epub Date: 2015-12-30 DOI: 10.5049/EBP.2015.13.2.58

Daejin Kim, Eun-Jung Ko, HyeJeong Cho, Su Hyung Park, Sang Hwan Lee, Nam-Gil Cho, So-Young Lee, Hye Yun Jeong, Dong Ho Yang

引用次数: 16

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