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 2. Results of exon sequencing of SLC12A3 gene.
| Gene | Chromosomal location | Reference transcript | Location | cDNA level | Protein level | State | Variation classification |
|---|---|---|---|---|---|---|---|
| SLC12A3 | 16q13 | NM_000339.2 | Exon12 | c.1456G>A | p.(Asp486Asn) | Homozygous | Pathogenic |