Genotype–phenotype correlations in children with Gitelman syndrome
Clinical and Experimental Nephrology(2024)
摘要
This study aimed to analyze genotype–phenotype correlations in children with Gitelman syndrome (GS). This multicenter retrospective study included 50 Korean children diagnosed with SLC12A3 variants in one or both alleles and the typical laboratory findings of GS. Genetic testing was performed using the Sanger sequencing except for one patient. The median age at the diagnosis was 10.5 years (interquartile range, 6.8;14.1), and 41 patients were followed up for a median duration of 5.4 years (interquartile range, 4.1;9.6). A total of 30 different SLC12A3 variants were identified. Of the patients, 34 (68
更多查看译文
关键词
Gitelman syndrome,Hypokalemia,SLC12A3,Genetic variant,Metabolic alkalosis
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要