End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.
Hum Genome Var
; 11(1): 17, 2024 Mar 28.
Article
em En
| MEDLINE
| ID: mdl-38548773
ABSTRACT
Autosomal dominant polycystic kidney disease (ADPKD) is commonly caused by PKD1, and mosaic PKD1 variants result in milder phenotypes. We present the case of a 32 year-old male with chronic active Epstein-Barr virus who underwent bone marrow transplantation with chemoradiotherapy at age 9. Despite a low-frequency mosaic splicing PKD1 variant, he developed severe renal cysts and end-stage renal disease in his 30 s. This case highlights how environmental factors may contribute to the genetic predisposition to ADPKD.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Japão