Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation
oleh: Somayeh Takrim Nojehdeh, Marzieh Mojbafan, Nakysa Hooman, Rozita Hoseini, Hasan Otukesh
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-12-01 |
Deskripsi
Abstract An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detected in this patient.