低频 PKD1 马赛克变异的终末期 ADPKD 因化疗放疗而加速发展

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-03-28 DOI:10.1038/s41439-024-00273-0

Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu

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引用次数: 0

摘要

常染色体显性多囊肾病（ADPKD）通常是由 PKD1 引起的，而 PKD1 马赛克变体会导致较轻的表型。我们报告了一例 32 岁男性患者的病例，他患有慢性活动性 Epstein-Barr 病毒，9 岁时接受了骨髓移植和化疗。尽管他患有低频镶嵌剪接 PKD1 变异，但在 30 多岁时还是患上了严重的肾囊肿和终末期肾病。这个病例凸显了环境因素如何导致 ADPKD 的遗传易感性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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

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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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks