0100488590

open access

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End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy

English (英語)

Human Genome Variation

11(1)

17

Springer Nature

2024-03-28

2024-04-10

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.

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