A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy
Bashair Alabbasi, Mugahid Elamin, Ghadah Alsallum, Ghada Alzahrany · 2026
Read A rare genetically confirmed case of apparent mineralocorticoid excess syndrome due to a homozygous HSD11B2 variant in a 2-year-old child with severe hypertension: response to targeted therapy by Bashair Alabbasi, Mugahid Elamin, Ghadah Alsallum, Ghada Alzahrany (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/PMC13434505.txt.
Description
Bashair Alabbasi and coauthors present a two year old girl with a rare hormone cause of high blood pressure in 2026. A faulty enzyme lets body cortisol act like a salt holding hormone, which drives pressure up and potassium down. Gene tests confirmed a double copy fault in the HSD11B2 gene.
Low potassium first showed during a throat illness, then again after the child swallowed bleach by chance. Each time the clue was set aside as a side effect of illness. The case shows why repeat low potassium in a toddler needs a hormone workup. Targeted therapy was started once the cause was proven.
Catalog record
| CREATOR | Bashair Alabbasi, Mugahid Elamin, Ghadah Alsallum, Ghada Alzahrany |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 12 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |