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.

中文翻译：

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放化疗加速晚期 ADPKD 的低频 PKD1 嵌合变异

常染色体显性多囊肾病 (ADPKD) 通常由PKD1引起，嵌合PKD1变异会导致较温和的表型。我们介绍了一名患有慢性活动性 Epstein-Barr 病毒的 32 岁男性病例，他在 9 岁时接受了骨髓移植和放化疗。尽管存在低频嵌合剪接PKD1变异，但他还是出现了严重的肾囊肿和终末期肾病30多岁时。该病例强调了环境因素如何导致 ADPKD 的遗传易感性。