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Type IV Collagen Mutations in Familial IgA Nephropathy.

作者信息

Li Yifu, Groopman Emily E, D'Agati Vivette, Prakash Sindhuri, Zhang Junying, Mizerska-Wasiak Malgorzata, Caliskan Yasar, Fasel David, Karnib Hussein H, Bono Luisa, Omran Sadek Al, Sabban Essam Al, Kiryluk Krzysztof, Caridi Gianluca, Ghiggeri Gian Marco, Sanna-Cherchi Simone, Scolari Francesco, Gharavi Ali G

机构信息

Divsion of Nephrology, Columbia University, New York, New York, USA.

Division of Renal Pathology, Columbia University, New York, New York, USA.

出版信息

Kidney Int Rep. 2020 Apr 24;5(7):1075-1078. doi: 10.1016/j.ekir.2020.04.011. eCollection 2020 Jul.

DOI:10.1016/j.ekir.2020.04.011
PMID:32647767
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7335950/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3db/7335950/b74d96b411c6/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3db/7335950/b74d96b411c6/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3db/7335950/b74d96b411c6/gr1.jpg

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Type IV Collagen Mutations in Familial IgA Nephropathy.家族性IgA肾病中的IV型胶原突变
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Immunofluorescent studies on IgA nephropathy: type IV collagen and glomerular basement membrane component detected by Goodpasture's syndrome serum and laminin.IgA肾病的免疫荧光研究：用Goodpasture综合征血清及层粘连蛋白检测IV型胶原和肾小球基底膜成分
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Glomerular basement membrane injuries in IgA nephropathy evaluated by double immunostaining for α5(IV) and α2(IV) chains of type IV collagen and low-vacuum scanning electron microscopy.通过对IV型胶原α5（IV）和α2（IV）链进行双重免疫染色及低真空扫描电子显微镜评估IgA肾病中的肾小球基底膜损伤。
Clin Exp Nephrol. 2015 Jun;19(3):427-35. doi: 10.1007/s10157-014-1008-8. Epub 2014 Jul 24.
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Role of myofibroblasts and collagen type IV in patients of IgA nephropathy as markers of renal dysfunction.肌成纤维细胞和IV型胶原在IgA肾病患者中作为肾功能障碍标志物的作用。
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[Monoclonal antibodies against human type IV collagen: preparation and its application in IgA nephropathy].[抗人IV型胶原单克隆抗体的制备及其在IgA肾病中的应用]
Zhonghua Yi Xue Za Zhi. 1990 Apr;70(4):205-7, 16.
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Patients with IgA nephropathy have circulating anti-basement membrane antibodies reacting with structures common to collagen I, II, and IV.IgA肾病患者体内存在循环抗基底膜抗体，这些抗体可与I型、II型和IV型胶原的共同结构发生反应。
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本文引用的文献

1
Diagnostic Utility of Exome Sequencing for Kidney Disease.外显子组测序在肾脏疾病诊断中的应用。
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.
2
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.《Alport 综合征遗传诊断专家共识指南》。
Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9.
3
New developments in the genetics, pathogenesis, and therapy of IgA nephropathy.IgA肾病的遗传学、发病机制及治疗方面的新进展。
J Transl Int Med. 2024 May 21;12(2):129-133. doi: 10.2478/jtim-2024-0005. eCollection 2024 Apr.
4
X-linked Alport syndrome presenting in mother and son with the same unique histopathological features.X 连锁显性遗传性 Alport 综合征在母子中呈现相同的独特组织病理学特征。
J Nephrol. 2024 Apr;37(3):769-772. doi: 10.1007/s40620-024-01942-7. Epub 2024 Apr 26.
5
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.Alport 综合征及 Alport 肾脏疾病——阐明疾病谱。
Curr Opin Nephrol Hypertens. 2024 May 1;33(3):283-290. doi: 10.1097/MNH.0000000000000983. Epub 2024 Mar 13.
6
The presence of xanthine dehydrogenase is crucial for the maturation of the rat kidneys.黄嘌呤氧化酶的存在对于大鼠肾脏的成熟至关重要。
Clin Sci (Lond). 2024 Mar 6;138(5):269-288. doi: 10.1042/CS20231144.
7
An Update on the Genetics of IgA Nephropathy.IgA肾病遗传学研究进展
J Clin Med. 2023 Dec 25;13(1):123. doi: 10.3390/jcm13010123.
8
Novel synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman: A case report.新型同义突变导致一名女性患阿尔波特综合征并伴有免疫球蛋白A肾病：病例报告
World J Clin Cases. 2023 Sep 6;11(25):5947-5953. doi: 10.12998/wjcc.v11.i25.5947.
9
Identification of variants in Chinese patients with familial hematuria.中国家族性血尿患者变异的鉴定。
Front Genet. 2023 Jan 9;13:1064491. doi: 10.3389/fgene.2022.1064491. eCollection 2022.
10
Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy.在同时患有 IgA 肾病和薄基底膜肾病的患者中，IV 型胶原和足细胞相关基因变异。
Nephron. 2023;147(5):301-310. doi: 10.1159/000526971. Epub 2022 Nov 8.
Kidney Int. 2015 Nov;88(5):974-89. doi: 10.1038/ki.2015.252. Epub 2015 Sep 16.
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Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.罕见的遗传性COL4A3/COL4A4变异可能被误诊为家族性局灶节段性肾小球硬化。
Kidney Int. 2014 Dec;86(6):1253-9. doi: 10.1038/ki.2014.305. Epub 2014 Sep 17.
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Glomerular basement membrane injuries in IgA nephropathy evaluated by double immunostaining for α5(IV) and α2(IV) chains of type IV collagen and low-vacuum scanning electron microscopy.通过对IV型胶原α5（IV）和α2（IV）链进行双重免疫染色及低真空扫描电子显微镜评估IgA肾病中的肾小球基底膜损伤。
Clin Exp Nephrol. 2015 Jun;19(3):427-35. doi: 10.1007/s10157-014-1008-8. Epub 2014 Jul 24.
6
IgA nephropathy.IgA肾病
N Engl J Med. 2013 Jun 20;368(25):2402-14. doi: 10.1056/NEJMra1206793.
7
Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36.对一个患有IgA肾病的大家庭进行全基因组连锁扫描，将一个新的易感基因座定位到2号染色体q36区域。
J Am Soc Nephrol. 2007 Aug;18(8):2408-15. doi: 10.1681/ASN.2007020241. Epub 2007 Jul 18.
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Thin basement membrane disease in patients with familial IgA nephropathy.家族性IgA肾病患者的薄基底膜病
J Nephrol. 2004 Nov-Dec;17(6):778-85.
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Incidence of latent mesangial IgA deposition in renal allograft donors in Japan.日本肾移植供体中潜在系膜IgA沉积的发生率。
Kidney Int. 2003 Jun;63(6):2286-94. doi: 10.1046/j.1523-1755.63.6s.2.x.