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

Hiroaki Hanafusa; Hiroshi Yamaguchi; Naoya Morisada; Ming Juan Ye; Riki Matsumoto; Hiroaki Nagase; Kandai Nozu

doi:10.1038/s41439-024-00273-0

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

Hum Genome Var. 2024 Mar 28;11(1):17. doi: 10.1038/s41439-024-00273-0.

Authors

Hiroaki Hanafusa¹, Hiroshi Yamaguchi², Naoya Morisada³, Ming Juan Ye¹, Riki Matsumoto⁴, Hiroaki Nagase¹, Kandai Nozu¹

Affiliations

¹ Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
² Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan. hiyamagu@med.kobe-u.ac.jp.
³ Department of Genetics, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
⁴ Department of Neurology, Kobe University Graduate School of Medicine, Hyogo, Japan.

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.