• 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

相似文献

1
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous or Variant?当存在致病性杂合子或变异时，我们是否应诊断常染色体显性遗传性阿尔波特综合征？
Kidney Int Rep. 2018 Aug 22;3(6):1239-1241. doi: 10.1016/j.ekir.2018.08.002. eCollection 2018 Nov.
2
Heterozygous Pathogenic and Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities.杂合致病性变异（常染色体显性遗传性阿尔波特综合征）很常见，且通常与终末期肾衰竭、听力损失或眼部异常无关。
Kidney Int Rep. 2022 Jun 7;7(9):1933-1938. doi: 10.1016/j.ekir.2022.06.001. eCollection 2022 Sep.
3
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.顺式排列的COL4A3和COL4A4双基因突导致一个中国大家庭患良性家族性血尿
Cytogenet Genome Res. 2018;154(3):132-136. doi: 10.1159/000488163. Epub 2018 May 9.
4
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.常染色体显性遗传性阿尔波特综合征：由COL4A3或COL4A4基因所致疾病的自然史。
Kidney Int. 2004 May;65(5):1598-603. doi: 10.1111/j.1523-1755.2004.00560.x.
5
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.COL4A3/COL4A4突变：从家族性血尿到常染色体显性或隐性遗传性肾炎综合征
Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.
6
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.欧洲人群的COL4A4基因研究：导致常染色体显性遗传性阿尔波特综合征的新突变描述
Int J Mol Epidemiol Genet. 2014 Dec 15;5(4):177-84. eCollection 2014.
7
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.葡萄牙的IV型胶原相关肾病：25个家系的致病性COL4A3和COL4A4突变及临床特征
Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10.
8
How genomics reclassifies diseases: the case of Alport syndrome.基因组学如何重新分类疾病：以阿尔波特综合征为例。
Clin Kidney J. 2020 Sep 16;13(6):933-935. doi: 10.1093/ckj/sfaa170. eCollection 2020 Dec.
9
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.X连锁和常染色体隐性遗传性奥尔波特综合征：致病变异特征及进一步的基因型-表型相关性
PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.
10
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).常染色体显性遗传性阿尔波特综合征与IV型胶原α3和α4基因（COL4A3和COL4A4）相关。
Nephrol Dial Transplant. 1997 Aug;12(8):1595-9. doi: 10.1093/ndt/12.8.1595.

引用本文的文献

1
Anti-Tumor Necrosis Factor Treatment for Glomerulopathy: Case Report and Review of Literature.抗肿瘤坏死因子治疗肾小球病：病例报告及文献综述
Fed Pract. 2024 Aug;41(8):250-255. doi: 10.12788/fp.0506. Epub 2024 Aug 15.
2
Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center.伊朗人群遗传性肾炎的临床病理特征：来自大型转诊中心的14年肾活检调查分析
Arch Iran Med. 2024 Jan 1;27(1):8-14. doi: 10.34172/aim.2024.02.
3
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.携带 COL4A3 或 COL4A4 种系致病性变异的个体中肾囊肿的患病率增加。
Nephrol Dial Transplant. 2024 Aug 30;39(9):1442-1448. doi: 10.1093/ndt/gfae031.
4
Sporadic Case of Heterozygous X-Linked Alport Syndrome.散发性杂合型X连锁遗传性肾炎病例
Glomerular Dis. 2023 May 16;3(1):126-131. doi: 10.1159/000530994. eCollection 2023 Jan-Dec.
5
Kidney Disease Associated With Mono-allelic and Variants: A Case Series of 17 Families.与单等位基因和变异相关的肾脏疾病：17个家庭的病例系列
Kidney Med. 2023 Feb 1;5(4):100607. doi: 10.1016/j.xkme.2023.100607. eCollection 2023 Apr.
6
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.IV型胶原相关肾病的多方面表型和基因型谱——人类遗传学部门的经验
Front Med (Lausanne). 2022 Aug 31;9:957733. doi: 10.3389/fmed.2022.957733. eCollection 2022.
7
Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.COL4A3 c.2881+1G>A 变异导致克罗地亚人群 Alport 谱疾病的临床和组织病理学特征。
Biomol Biomed. 2023 Feb 1;23(1):89-100. doi: 10.17305/bjbms.2022.7567.
8
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing.利用全基因组测序探索自发性冠状动脉夹层的遗传结构。
Circ Genom Precis Med. 2022 Aug;15(4):e003527. doi: 10.1161/CIRCGEN.121.003527. Epub 2022 May 18.
9
Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies.利用基因组编辑技术建立遗传性肾脏疾病模型。
Cells. 2022 May 6;11(9):1571. doi: 10.3390/cells11091571.
10
Novel Therapies for Alport Syndrome.奥尔波特综合征的新型疗法
Front Med (Lausanne). 2022 Apr 25;9:848389. doi: 10.3389/fmed.2022.848389. eCollection 2022.

本文引用的文献

1
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.IV型胶原肾病的常染色体显性遗传形式存在于临床病理诊断困难的遗传性肾炎患者中。
Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.
2
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.常染色体显性遗传家族性镜下血尿伴局灶节段性肾小球硬化所致晚发型 Alport 肾病中 COL4 基因突变频繁发生。
Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.
3
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.NEPH3基因中的一个功能性变异赋予原发性血尿性肾小球病患者肾衰竭的高风险。一般人群中微量白蛋白尿易感性的证据。
PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017.
4
Identification of a novel collagen type IV alpha-4 () mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.利用外显子组测序在中国一个常染色体显性遗传阿尔波特综合征家系中鉴定一种新型IV型胶原α-4（）突变
Indian J Med Res. 2016 Aug;144(2):200-205. doi: 10.4103/0971-5916.195026.
5
Alport syndrome: impact of digenic inheritance in patients management.奥尔波特综合征：双基因遗传在患者管理中的影响
Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22.
6
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population.欧洲人群中常染色体显性遗传性阿尔波特综合征真实临床进展的研究。
Kidney Blood Press Res. 2015;40(4):435-42. doi: 10.1159/000368519. Epub 2015 Jul 31.
7
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.常染色体隐性遗传性奥尔波特综合征携带者合并薄基底膜肾病，在晚年表现为局灶节段性肾小球硬化。
Nephron. 2015;130(4):271-80. doi: 10.1159/000435789. Epub 2015 Jul 17.
8
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.欧洲人群的COL4A4基因研究：导致常染色体显性遗传性阿尔波特综合征的新突变描述
Int J Mol Epidemiol Genet. 2014 Dec 15;5(4):177-84. eCollection 2014.
9
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.COL4A5和MYO1E突变的共同遗传会加重肾脏疾病的严重程度。
Pediatr Nephrol. 2015 Sep;30(9):1459-65. doi: 10.1007/s00467-015-3067-9. Epub 2015 Mar 5.
10
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.COL4A3/COL4A4 基因突变及常染色体隐性遗传型 Alport 综合征的特征。
J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.

Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous or Variant?

作者信息

Savige Judy

机构信息

Department of Medicine (Melbourne Health) and Northern Health, The University of Melbourne, Parkville, Victoria, Australia.

出版信息

Kidney Int Rep. 2018 Aug 22;3(6):1239-1241. doi: 10.1016/j.ekir.2018.08.002. eCollection 2018 Nov.

DOI:10.1016/j.ekir.2018.08.002
PMID:30450445
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6224634/
Abstract
摘要