Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation
Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Angélica Rojo, María Luisa Ceballos, Paola Krall · 2025
Read Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation by Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Angélica Rojo, María Luisa Ceballos, Paola Krall (2025) 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/pmc-11826236.txt.
Description
Ignacio Alarcon and co-authors present a case report on a Chilean boy with a kidney disease that does not answer to steroids. Such disease often scars the kidney filters and can lead to kidney failure in childhood or adult life.
The boy was ten when protein in his urine was found by chance before surgery. Steroid treatment failed, and within weeks his protein loss surged. A biopsy showed the scarring pattern, and by age twelve he needed dialysis. Gene testing found a new variant in a gene called ACTN4, in a part of the protein that is strongly conserved. When he asked to be listed for a transplant, the team rechecked the variant to weigh the risks.
Catalog record
| CREATOR | Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Angélica Rojo, María Luisa Ceballos, Paola Krall |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 18 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |