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奥尔波特家族性肾炎。肾小球基底膜中缺乏IV型胶原的28千道尔顿非胶原单体。

Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.

作者信息

Kleppel M M, Kashtan C E, Butkowski R J, Fish A J, Michael A F

出版信息

J Clin Invest. 1987 Jul;80(1):263-6. doi: 10.1172/JCI113057.

DOI:10.1172/JCI113057
PMID:3298322
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC442227/
Abstract

Alport-type familial nephritis (FN), a genetic disorder, results in progressive renal insufficiency and sensorineural hearing loss. Immunochemical and biochemical analyses of the non-collagenous (NC1) domain of type IV collagen isolated from the glomerular basement membranes (GBM) of three males with this disease demonstrate absence of the normally occurring 28-kilodalton (kD) NC1 monomers, but persistence of the 26- and 24-kD monomeric subunits derived from alpha 1 and 2 (both type IV) collagen chains, respectively.

摘要

奥尔波特型家族性肾炎（FN）是一种遗传性疾病，会导致进行性肾功能不全和感音神经性听力丧失。对三名患有这种疾病的男性肾小球基底膜（GBM）中分离出的IV型胶原蛋白非胶原（NC1）结构域进行免疫化学和生化分析表明，正常存在的28千道尔顿（kD）NC1单体缺失，但分别源自α1和2（均为IV型）胶原链的26-kD和24-kD单体亚基持续存在。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf4a/442227/0e36d281693b/jcinvest00091-0275-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf4a/442227/11029fb6c844/jcinvest00091-0274-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf4a/442227/0e36d281693b/jcinvest00091-0275-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf4a/442227/11029fb6c844/jcinvest00091-0274-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf4a/442227/0e36d281693b/jcinvest00091-0275-a.jpg

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Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.奥尔波特家族性肾炎。肾小球基底膜中缺乏IV型胶原的28千道尔顿非胶原单体。
J Clin Invest. 1987 Jul;80(1):263-6. doi: 10.1172/JCI113057.
2
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本文引用的文献

1
Electrophoretic transfer of proteins and nucleic acids from slab gels to diazobenzyloxymethyl cellulose or nitrocellulose sheets.蛋白质和核酸从平板凝胶电泳转移至重氮苄氧基甲基纤维素或硝酸纤维素膜上。
Anal Biochem. 1980 Mar 1;102(2):459-71. doi: 10.1016/0003-2697(80)90182-7.
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Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations.遗传性肾病（阿尔波特综合征）：临床数据与肾小球基底膜改变的相关性
Clin Nephrol. 1980 May;13(5):203-7.
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Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies.
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Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome.缺乏胶原蛋白α3（IV）的小鼠肾脏中的分子和功能缺陷：对阿尔波特综合征的影响。
J Cell Biol. 1996 Dec;135(5):1403-13. doi: 10.1083/jcb.135.5.1403.
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Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV.犬X染色体连锁遗传性肾炎：一种因编码IV型胶原α5链的基因发生单碱基突变导致的人类X连锁遗传性肾炎的遗传模型。
Proc Natl Acad Sci U S A. 1994 Apr 26;91(9):3989-93. doi: 10.1073/pnas.91.9.3989.
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Alport's syndrome.阿尔波特综合征
J Med Genet. 1988 Sep;25(9):623-7. doi: 10.1136/jmg.25.9.623.
7
The NC1 domain of collagen type IV in neonatal dog glomerular basement membranes. Significance in Samoyed hereditary glomerulopathy.新生犬肾小球基底膜中IV型胶原的NC1结构域。在萨摩耶遗传性肾小球病中的意义。
Am J Pathol. 1989 May;134(5):1047-54.
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Human tissue distribution of novel basement membrane collagen.新型基底膜胶原蛋白的人体组织分布
Am J Pathol. 1989 Apr;134(4):813-25.
9
The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target.两名患有Alport综合征的儿童肾移植后抗肾小球基底膜肾炎的发生：抗体靶点的特征分析
Pediatr Nephrol. 1989 Oct;3(4):406-13. doi: 10.1007/BF00850217.
10
Connective tissue metabolism in children with chronic renal failure.慢性肾功能衰竭患儿的结缔组织代谢
Pediatr Nephrol. 1989 Apr;3(2):179-85. doi: 10.1007/BF00852905.
通过肾小球不能结合抗肾小球基底膜抗体来诊断遗传性肾炎。
J Pediatr. 1980 Apr;96(4):697-9. doi: 10.1016/s0022-3476(80)80746-3.
4
Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis.一些遗传性肾炎患者缺乏致肾炎性肾小球基底膜抗原。
Kidney Int. 1982 Apr;21(4):642-52. doi: 10.1038/ki.1982.72.
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Renal transplantation in Alport's syndrome: anti-glomerular basement membrane glomerulonephritis in the allograft.Alport综合征中的肾移植：同种异体肾移植中的抗肾小球基底膜肾小球肾炎
Mayo Clin Proc. 1982 Jan;57(1):35-43.
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Subunit structure and assembly of the globular domain of basement-membrane collagen type IV.基底膜IV型胶原蛋白球状结构域的亚基结构与组装
Eur J Biochem. 1984 Mar 1;139(2):401-10. doi: 10.1111/j.1432-1033.1984.tb08019.x.
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Monoclonal antibodies to human renal basement membranes: heterogenic and ontogenic changes.抗人肾基底膜单克隆抗体：异质性和个体发育变化
Kidney Int. 1983 Jul;24(1):74-86. doi: 10.1038/ki.1983.128.
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Absence of Goodpasture's antigen in male patients with familial nephritis.家族性肾炎男性患者中Goodpasture抗原缺失。
Am J Kidney Dis. 1983 May;2(6):626-9. doi: 10.1016/s0272-6386(83)80043-2.
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Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen.肾小球基底膜的Goodpasture抗原：定位于IV型胶原的非胶原区域。
Proc Natl Acad Sci U S A. 1984 Jun;81(12):3838-42. doi: 10.1073/pnas.81.12.3838.
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A network model for the organization of type IV collagen molecules in basement membranes.一种用于基底膜中IV型胶原蛋白分子组织的网络模型。
Eur J Biochem. 1981 Nov;120(2):203-11. doi: 10.1111/j.1432-1033.1981.tb05690.x.