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奥尔波特综合征：事实与观点。

Alport syndrome: facts and opinions.

作者信息

Kashtan Clifford

机构信息

Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Medical School, Minneapolis, MN, USA.

出版信息

F1000Res. 2017 Jan 17;6:50. doi: 10.12688/f1000research.9636.1. eCollection 2017.

DOI:10.12688/f1000research.9636.1
PMID:28163907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5247785/
Abstract

In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

摘要

在这篇评论中，我回顾了奥尔波特综合征在遗传学、诊断和治疗方面的最新进展。我还就优化受影响个体的早期识别策略以促进早期治疗干预提出了一些看法。

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1
Alport syndrome: facts and opinions.奥尔波特综合征：事实与观点。
F1000Res. 2017 Jan 17;6:50. doi: 10.12688/f1000research.9636.1. eCollection 2017.
2
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
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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.
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Alport syndrome and thin basement membrane nephropathy.奥尔波特综合征和薄基底膜肾病。
Nephron Clin Pract. 2007;106(2):c82-8. doi: 10.1159/000101802. Epub 2007 Jun 6.
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COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.薄基底膜肾病中的COL4A4突变，先前在Alport综合征中已有描述。
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Clinical and molecular diagnosis of Alport syndrome.奥尔波特综合征的临床与分子诊断
Proc Assoc Am Physicians. 1995 Oct;107(3):306-13.
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Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.IV 型胶原肾病：受影响的匈牙利家族的遗传异质性检查。
Mol Cell Probes. 2011 Feb;25(1):28-34. doi: 10.1016/j.mcp.2010.10.001. Epub 2010 Oct 14.
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Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.奥尔波特综合征中的新型COL4A5、COL4A4和COL4A3突变。
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COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.一个沙特大型近亲家族中由新型突变引起的COL4A4相关肾病。
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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
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Detection of haematuria and proteinuria reflects injury to significantly different glomerular surface areas: a quantitative hypothesis.血尿和蛋白尿的检测反映了对显著不同肾小球表面积的损伤：一种定量假说。
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Collagen type IV alpha 6 promotes tumor progression and chemoresistance in ovarian cancer by activating the discoidin domain receptor 1 pathway.IV型胶原蛋白α6通过激活盘状结构域受体1途径促进卵巢癌的肿瘤进展和化疗耐药性。
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Gender Differences in Diabetic Kidney Disease: Focus on Hormonal, Genetic and Clinical Factors.性别差异与糖尿病肾病：关注激素、遗传和临床因素。
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本文引用的文献

1
Three-dimensional electron microscopy reveals the evolution of glomerular barrier injury.三维电子显微镜揭示肾小球滤过屏障损伤的演变。
Sci Rep. 2016 Oct 11;6:35068. doi: 10.1038/srep35068.
2
Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies strial pathology in Alport mice.内皮素-1介导的血管纹边缘细胞外基质基因诱导是Alport小鼠血管纹病理的基础。
Hear Res. 2016 Nov;341:100-108. doi: 10.1016/j.heares.2016.08.003. Epub 2016 Aug 21.
3
Alport Syndrome in Women and Girls.女性和女童的奥尔波特综合征
Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-1720. doi: 10.2215/CJN.00580116. Epub 2016 Jun 10.
4
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.家族性肾病中的一种新型COL4A1移码突变：IV型胶原C端NC1结构域的重要性。
Nephrol Dial Transplant. 2016 Nov;31(11):1908-1914. doi: 10.1093/ndt/gfw051. Epub 2016 Apr 8.
5
Endothelin A receptor activation on mesangial cells initiates Alport glomerular disease.系膜细胞上的内皮素A受体激活引发阿尔波特肾小球疾病。
Kidney Int. 2016 Aug;90(2):300-310. doi: 10.1016/j.kint.2016.02.018. Epub 2016 Apr 27.
6
Albumin contributes to kidney disease progression in Alport syndrome.白蛋白在Alport综合征中促进肾脏疾病进展。
Am J Physiol Renal Physiol. 2016 Jul 1;311(1):F120-30. doi: 10.1152/ajprenal.00456.2015. Epub 2016 May 4.
7
Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome.COL(IV)A3(-)/(-)小鼠血清中的临床前改变作为Alport综合征的早期生物标志物
J Proteome Res. 2015 Dec 4;14(12):5202-14. doi: 10.1021/acs.jproteome.5b00814. Epub 2015 Nov 3.
8
Evidence of digenic inheritance in Alport syndrome.奥尔波特综合征双基因遗传的证据。
J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9.
9
Anti-microRNA-21 oligonucleotides prevent Alport nephropathy progression by stimulating metabolic pathways.抗微小RNA-21寡核苷酸通过刺激代谢途径预防奥尔波特肾病进展。
J Clin Invest. 2015 Jan;125(1):141-56. doi: 10.1172/JCI75852. Epub 2014 Nov 21.
10
Laminin α2-mediated focal adhesion kinase activation triggers Alport glomerular pathogenesis.层粘连蛋白α2介导的粘着斑激酶激活引发奥尔波特肾小球发病机制。
PLoS One. 2014 Jun 10;9(6):e99083. doi: 10.1371/journal.pone.0099083. eCollection 2014.