03 November 2024
: Case report
Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia
Challenging differential diagnosis, Rare disease, Adverse events of drug therapy
Rujie Jiang1ABCDEF, Qiue Liu1B, Yanan Sun1B, Xiaoqing Dai1C, Feng Xu1D*, Fang Wang1ADEFDOI: 10.12659/AJCR.944492
Am J Case Rep 2024; 25:e944492
Table 4. Number of reports on common GS gene variants in China, Japan, and Europe.
Region | cDNA level | Protein level | Reference |
---|---|---|---|
China | c.179C>T | p.Thr60Met | 92 |
c.1456G>A | p.Asp486Asn | 85 | |
c.791C>G | p.Ala264Gly | 32 | |
Japan | c.2573T>A | p.Leu858His | 79 |
c.1924C>T | p.Arg642Cys | 26 | |
c.1868T>C | p.Leu623Pro | 16 | |
Europe | IVS9+1G>T | splicing | 55 |
c.1196_1202dup7bp | p.Ser402X | 30 |