Diagnostic characteristics of hypokalemia with gene mutations
Wang Qian1, Wang Yongping1, Li Xinpei1, Yang Chengyan2, Xu Hui3, Sun Fengjuan3, Liu Yaping3，4，5
1College of Clinical Medicine, Jining Medical University, Jining 272013, China; 2College of Clinical Medicine, Shandong First Medical University, Taian 271099, China; 3Department of Endocrinology, the First People′s Hospital of Jining, Jining 272002, China； 4Cisen Pharmaceutical Co., Ltd., Jining 272000, China; 5School of Pharmaceutical Sciences, Shandong University, Jinan 250012, China
Abstract：ObjectiveTo discuss the clinical features, diagnostic ideas, and the need for genetic testing of Liddle syndrome and Gitelman syndrome. MethodsRetrospectively analyzing 2 patients with hypokalemia in Endocrinology Department of the First People′s Hospital of Jining, including clinical manifestations, relevant examination improvement, and gene detection. ResultsPatient 1 had progressive aggravation of limb weakness, serum potassium 2.2mmol/L, serum sodium 148mmol/L, the highest blood pressure 178/110mmHg(1mmHg=0.133kPa), and both parents suffered from hypertension. Gene detection showed that the patient had a frameshift mutation of SCNN1B gene c.1783_1784insT(p.Ala595ValfsTer13). The patient was diagnosed with Liddle syndrome. Patient 2 had paroxysmal limb convulsions, serum potassium 2.74mmol/L, serum magnesium 0.64mmol/L, and blood pressure 97/75mmHg. Gene detection revealed missense mutations of SLC12A3 gene c.536T＞A(p．Val179Asp), c.1763C＞T(p．Ala588Val), and the patient was diagnosed with Gitelman syndrome. ConclusionsLiddle syndrome and Gitelman syndrome are rare diseases that lead to hypokalemia clinically, and their clinical manifestations are sometimes not obvious. Gene detection is an important diagnostic tool that aids in targeted treatment. Gene detection was used in this study to discover new mutant sites in the SCNN1B and SLC12A3 genes.
王倩 王永萍 李新培 杨成艳 许慧 孙凤娟 刘亚平. 伴基因突变的低钾血症诊断学特征分析[J]. 中华诊断学电子杂志, 2023, 11(2): 115-119.
Wang Qian, Wang Yongping, Li Xinpei, Yang Chengyan, Xu Hui, Sun Fengjuan, Liu Yaping. Diagnostic characteristics of hypokalemia with gene mutations. zhzdx, 2023, 11(2): 115-119.
