Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report
Ruiping Zhang, Ying Zhang, Yanyan Nie, Yanling Bai, Jianbo Shu, Yang Liu · 2026
Read Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report by Ruiping Zhang, Ying Zhang, Yanyan Nie, Yanling Bai, Jianbo Shu, Yang Liu (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13290554.txt.
Description
Two rare inherited diseases that pull potassium in opposite directions shared one newborn, in a 2026 case report by Ruiping Zhang and colleagues. The boy was admitted to Tianjin Children's Hospital after ten days of intermittent convulsions.
Tests found dangerously low sodium, 88 mmol/L, which explained the seizures, plus hormone levels far above range that pointed to 21-hydroxylase deficiency. Genetic testing then confirmed a second condition: variants in both CYP21A2 and the SLC12A3 gene of Gitelman syndrome, a kidney tubule disorder. One disease tends to raise potassium and the other to lower it, which can mask the picture. Zhang and colleagues use the case to show the worth of genetic testing when a baby's chemistry does not add up.
Catalog record
| CREATOR | Ruiping Zhang, Ying Zhang, Yanyan Nie, Yanling Bai, Jianbo Shu, Yang Liu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 15909 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |