Clinical Analysis of a Hypokalemic Salt-losing Tubulopathy Case  

作　　者：Wei Zheng Quan Hong Xue-Guang Zhang Xiao-Dong Geng Guang-Yan Cai Xiang-Mei Chen Di Wu 

机构地区：[1]Department of Nephrology, Chinese People's Liberation Army General Hospital, Chinese People's Liberation Army Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Kidney Disease, Beijing 100853, China

出　　处：《Chinese Medical Journal》2016年第5期601-603,共3页中华医学杂志（英文版）

摘　　要：Hypokalemia is among the most common electrolyte disorders in clinical practice and severe condition is life-threatening and has received extensive attention in clinical practice. Genetic diagnosis remains the gold standard for the diagnosis and identification of hereditary renal tubular diseases. Below is the report of genotyping and diagnosis of a case of secondary Gitelman syndrome （GS） based on next-generation sequencing.Hypokalemia is among the most common electrolyte disorders in clinical practice and severe condition is life-threatening and has received extensive attention in clinical practice. Genetic diagnosis remains the gold standard for the diagnosis and identification of hereditary renal tubular diseases. Below is the report of genotyping and diagnosis of a case of secondary Gitelman syndrome （GS） based on next-generation sequencing.

关 键 词：DIAGNOSIS Gene Screening HYPOKALEMIA 

分 类 号：R4[医药卫生—临床医学]