Lingxia Zhang, Ke Huang, Shugang Wang, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, Guanping Dong, Jianhua Mao
Gitelman syndrome (GS, OMIM 263800) is a genetic congenital tubulopathy associated with salt loss, which is characterized by hypokalemic metabolic toxicity, hypocalciuria, and hypomagnesemia. GS, which is typically detected in adolescence or adulthood, has long been considered a benign tubular lesion; however, the disease is associated with a significant decrease in the quality of life. In this study, we assessed the genotype-phenotype correlations based on the medical histories, clinical symptoms, laboratory test results, and whole-exome sequencing profiles from pediatric patients with GS...
2021: Frontiers in Pediatrics