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

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

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....

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Bibliographic Details
Main Authors: Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu
Format: Article
Language:English
Published: Nature Publishing Group 2024-03-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00273-0
Description
Summary: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.
ISSN:2054-345X

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