• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

接受放化疗加速进展的终末期常染色体显性多囊肾病伴低频PKD1嵌合变异体

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

作者信息

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

机构信息

Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.

Department of Genetics, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.

出版信息

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

DOI:10.1038/s41439-024-00273-0
PMID:38548773
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10978896/
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.

摘要

常染色体显性多囊肾病（ADPKD）通常由PKD1引起，而镶嵌性PKD1变异会导致较轻的表型。我们报告了一例32岁男性病例，该患者患有慢性活动性EB病毒感染，9岁时接受了放化疗的骨髓移植。尽管存在低频镶嵌性剪接PKD1变异，但他在30多岁时仍出现了严重肾囊肿和终末期肾病。该病例凸显了环境因素可能如何促成ADPKD的遗传易感性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5c5/10978896/2d22987e752b/41439_2024_273_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5c5/10978896/20eab4d4ce75/41439_2024_273_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5c5/10978896/2d22987e752b/41439_2024_273_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5c5/10978896/20eab4d4ce75/41439_2024_273_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5c5/10978896/2d22987e752b/41439_2024_273_Fig2_HTML.jpg

相似文献

1
End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.接受放化疗加速进展的终末期常染色体显性多囊肾病伴低频PKD1嵌合变异体
Hum Genome Var. 2024 Mar 28;11(1):17. doi: 10.1038/s41439-024-00273-0.
2
Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.通过全外显子组测序鉴定和分析沙特患者慢性肾脏病（CKD）和常染色体显性多囊肾病（ADPKD）中的新型突变。
Medicina (Kaunas). 2022 Nov 16;58(11):1657. doi: 10.3390/medicina58111657.
3
Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.马耳他常染色体显性遗传性多囊肾病的基因型-表型。
Eur J Med Genet. 2024 Jun;69:104934. doi: 10.1016/j.ejmg.2024.104934. Epub 2024 Mar 26.
4
A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease.一个新的杂合 PKD1 变异导致一个常染色体显性多囊肾病家系中的选择性剪接。
Mol Genet Genomic Med. 2023 Aug;11(8):e2217. doi: 10.1002/mgg3.2217. Epub 2023 Jun 5.
5
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.捷克一个常染色体显性多囊肾病家族中致病PKD1和PKD2变异的双系遗传——病例报告
BMC Nephrol. 2018 Jul 4;19(1):163. doi: 10.1186/s12882-018-0978-2.
6
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.家族性常染色体显性多囊肾病伴镶嵌现象和低功能等位基因。
BMC Nephrol. 2013 Mar 15;14:59. doi: 10.1186/1471-2369-14-59.
7
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.丹麦常染色体显性遗传性多囊肾病患者的临床遗传学诊断揭示了可能的创始变体。
Eur J Med Genet. 2021 Apr;64(4):104183. doi: 10.1016/j.ejmg.2021.104183. Epub 2021 Feb 24.
8
A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.一种新的PKD1变异体在常染色体显性遗传性多囊肾病患者中与截短型PKD1突变呈反式作用，表现出疾病修饰作用。
BMC Nephrol. 2015 Mar 1;16:26. doi: 10.1186/s12882-015-0015-7.
9
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.一种继发性、罕见、非致病性PKD1变异对常染色体显性多囊肾病疾病进展的影响。
J Nephrol. 2025 Jan 30. doi: 10.1007/s40620-025-02211-x.
10
Metformin improves relevant disease parameters in an autosomal dominant polycystic kidney disease mouse model.二甲双胍改善常染色体显性遗传性多囊肾病小鼠模型的相关疾病参数。
Am J Physiol Renal Physiol. 2022 Jan 1;322(1):F27-F41. doi: 10.1152/ajprenal.00298.2021. Epub 2021 Nov 22.

引用本文的文献

1
Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern.具有非典型遗传模式的常染色体显性多囊肾病患者的典型临床表现。
Genes (Basel). 2024 Dec 30;16(1):39. doi: 10.3390/genes16010039.

本文引用的文献

1
CHOROIDAL NEOVASCULARIZATION IN TORPEDO MACULOPATHY TREATED BY AFLIBERCEPT: LONG-TERM FOLLOW-UP USING OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.阿柏西普治疗鱼雷状黄斑病变脉络膜新生血管：应用光学相干断层扫描和光学相干断层扫描血管造影的长期随访。
Retin Cases Brief Rep. 2023 Jul 1;17(4):433-437. doi: 10.1097/ICB.0000000000001213.
2
Mechanisms of Cyst Development in Polycystic Kidney Disease.多囊肾病中囊肿发展的机制。
Adv Kidney Dis Health. 2023 May;30(3):209-219. doi: 10.1053/j.akdh.2023.03.001.
3
Radiation-induced Brain Calcification Leads to L-dopa-resistant Parkinsonism and Cerebellar Ataxia.
辐射诱导的脑钙化导致左旋多巴抵抗型帕金森病和小脑共济失调。
Intern Med. 2022 Dec 15;61(24):3723-3727. doi: 10.2169/internalmedicine.8400-21. Epub 2022 May 21.
4
Treatment Advances in EBV Related Lymphoproliferative Diseases.EB病毒相关淋巴增殖性疾病的治疗进展
Front Oncol. 2022 Apr 19;12:838817. doi: 10.3389/fonc.2022.838817. eCollection 2022.
5
Refractory Epilepsy as a Late Effect of Chemoradiation in Childhood Cancer: A Case Series.儿童癌症化放疗后迟发性耐药性癫痫：病例系列研究。
Pediatr Neurol. 2022 Feb;127:56-59. doi: 10.1016/j.pediatrneurol.2021.11.006. Epub 2021 Nov 19.
6
Clinicopathological differences in radiation-induced organizing hematomas of the brain based on type of radiation treatment and primary lesions.基于放射治疗类型和原发性病变的放射性脑机化血肿的临床病理差异
J Pathol Transl Med. 2022 Jan;56(1):16-21. doi: 10.4132/jptm.2021.08.30. Epub 2021 Oct 15.
7
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.常染色体显性遗传性多囊肾病中嵌合体的检测与特征分析。
Kidney Int. 2020 Feb;97(2):370-382. doi: 10.1016/j.kint.2019.08.038. Epub 2019 Oct 9.
8
Polycystic kidney disease.多囊肾病。
Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y.
9
Secondary cancer after a childhood cancer diagnosis: viewpoints considering primary cancer.儿童癌症诊断后的二次癌症：考虑原发性癌症的观点。
Int J Clin Oncol. 2018 Dec;23(6):1178-1188. doi: 10.1007/s10147-018-1303-6. Epub 2018 Jun 5.
10
A polycystin-centric view of cyst formation and disease: the polycystins revisited.以多囊蛋白为中心的囊肿形成与疾病观点：重新审视多囊蛋白
Kidney Int. 2015 Oct;88(4):699-710. doi: 10.1038/ki.2015.207. Epub 2015 Jul 22.