THIN BASEMENT MEMBRANE NEPHROPATHY DUE TO HETEROZYGOUS COL4A3/COL4A4 MUTATIONS IS A MORE FREQUENT CAUSE OF ESKD COMPARED TO ALPORT SYNDROME

被引:0
|
作者
Arsali, Maria [1 ]
Papazachariou, Louiza [2 ]
Demosthenous, Panayiota [2 ]
Lazarou, Akis [1 ]
Hadjigavriel, Michalis [5 ]
Stavrou, Christoforos [6 ]
Yioukkas, Lakis [7 ]
Voskarides, Konstantinos [2 ]
Deltas, Constantinos [2 ]
Zavros, Michalis [3 ]
Pierides, Alkis [4 ]
机构
[1] Limassol Gen Hosp, Limassol, Cyprus
[2] Mol Med Res Ctr, Nicosia, Cyprus
[3] Nicosia Gen Hosp, Nicosia, Cyprus
[4] Hippokrateon Hosp, Nicosia, Cyprus
[5] Larnaca Gen Hosp, Larnax, Cyprus
[6] Evangelismos Med Ctr, Paphos, Cyprus
[7] Paphos Gen Hosp, Paphos, Cyprus
关键词
D O I
暂无
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
引用
收藏
页码:313 / 314
页数:2
相关论文
共 50 条
  • [31] Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
    Liwei Guo
    Duan Li
    Shuangshuang Dong
    Donghao Wang
    Baosheng Yang
    Yanmei Huang
    [J]. Journal of Genetics, 2017, 96 : 389 - 392
  • [32] Segregation of haematuria with the COL4A3/COL4A4 locus in 21 children with thin basement membrane disease (TBMD) and their families.
    Rana, K
    Wang, YY
    Powell, H
    McCredie, D
    Buzza, M
    Dagher, H
    Udawela, M
    Savige, J
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 : 304A - 304A
  • [33] Genetic Variants of the COL4A3, COL4A4, and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients
    Yuan, Xiaohan
    Su, Qing
    Wang, Hui
    Shi, Sufang
    Liu, Lijun
    Lv, Jicheng
    Wang, Suxia
    Zhu, Li
    Zhang, Hong
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2023, 34 (01): : 132 - 144
  • [34] Mutations in the COL4A3 gene in thin basement membrane disease (TBMD).
    Wang, YY
    Rana, K
    Dagher, H
    Buzza, M
    Savige, J
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 : 304A - 304A
  • [35] NOVEL COMPOUND HETEROZYGOUS VARIATIONS OF COL4A4 RELATED TO ALPORT SYNDROME
    Liu, Xin
    Huang, Tianlun
    Tu, Weiping
    Xu, Gaosi
    [J]. NEPHROLOGY, 2020, 25 : 55 - 55
  • [36] Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)
    Jefferson, JA
    Lemmink, HH
    Hughes, AE
    Hill, CM
    Smeets, HJM
    Doherty, CC
    Maxwell, AP
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 1997, 12 (08) : 1595 - 1599
  • [37] Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants
    Pilco Teran, Melissa
    Furlano, Monica
    Pybus, Marc
    Martinez Jimenez, Victor
    Goma-Garces, Elena
    Galan Carrillo, Isabel
    Leon, Rafael
    Soler Romeo, Maria Jose
    Fayos de Arizon, Leonor
    Perera, Alexandre
    Ars, Elisabet
    Torra, Roser
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I416 - I417
  • [38] A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
    Yavas, Cueneyd
    Ozgenturk, Nehir Ozdemir
    Dogan, Mustafa
    Gezdirici, Alper
    Keskin, Ece
    Ili, Ezgi Gokpinar
    Dogan, Tunay
    Celebi, Evrim
    Bender, Onur
    Un, Cemal
    [J]. MOLECULAR SYNDROMOLOGY, 2023, 15 (01) : 1 - 13
  • [39] Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
    Zhang, Ke Wei
    Tonna, Stephen
    Wang, Yan Yan
    Rana, Kesha
    Padavarat, Smitha
    Savige, Judy
    [J]. PEDIATRIC NEPHROLOGY, 2007, 22 (05) : 645 - 651
  • [40] ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)
    Caprara, Carlotta
    Corradi, Valentina
    Rigato, Matteo
    Mancini, Barbara
    Marzano, Nenzi
    Perbellini, Omar
    Gastaldon, Fiorella
    Ronco, Claudio
    Zanella, Monica
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I1962 - I1962