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....
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00273-0 |
| _version_ | 1797233652994670592 |
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| author | Hiroaki Hanafusa Hiroshi Yamaguchi Naoya Morisada Ming Juan YE Riki Matsumoto Hiroaki Nagase Kandai Nozu |
| author_facet | Hiroaki Hanafusa Hiroshi Yamaguchi Naoya Morisada Ming Juan YE Riki Matsumoto Hiroaki Nagase Kandai Nozu |
| author_sort | Hiroaki Hanafusa |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T16:19:35Z |
| format | Article |
| id | doaj.art-40fae847fbc140e1944c6d8d4bcb8911 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-04-24T16:19:35Z |
| publishDate | 2024-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-40fae847fbc140e1944c6d8d4bcb89112024-03-31T11:14:18ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111310.1038/s41439-024-00273-0End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapyHiroaki Hanafusa0Hiroshi Yamaguchi1Naoya Morisada2Ming Juan YE3Riki Matsumoto4Hiroaki Nagase5Kandai Nozu6Department of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Genetics, Hyogo Prefectural Kobe Children’s HospitalDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Neurology, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineAbstract 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.https://doi.org/10.1038/s41439-024-00273-0 |
| spellingShingle | Hiroaki Hanafusa Hiroshi Yamaguchi Naoya Morisada Ming Juan YE Riki Matsumoto Hiroaki Nagase Kandai Nozu End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy Human Genome Variation |
| title | End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy |
| title_full | End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy |
| title_fullStr | End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy |
| title_full_unstemmed | End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy |
| title_short | End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy |
| title_sort | end stage adpkd with a low frequency pkd1 mosaic variant accelerated by chemoradiotherapy |
| url | https://doi.org/10.1038/s41439-024-00273-0 |
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