COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis

被引:2
作者
Deltas, Constantinos [1 ,2 ]
Pierides, Alkis [1 ]
机构
[1] Univ Cyprus, Mol Med Res Ctr, Dept Biol Sci, CY-1678 Nicosia, Cyprus
[2] Univ Cyprus, Dept Biol Sci, Lab Mol & Med Genet, CY-1678 Nicosia, Cyprus
关键词
BASEMENT-MEMBRANE NEPHROPATHY;
D O I
10.1038/ki.2015.38
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:859 / 859
页数:1
相关论文
共 7 条
  • [1] Molecular genetics of familial hematuric diseases
    Deltas, Constantinos
    Pierides, Alkis
    Voskarides, Konstantinos
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2013, 28 (12) : 2946 - 2960
  • [2] The clinical features of thin basement membrane nephropathy
    Gregory, MC
    [J]. SEMINARS IN NEPHROLOGY, 2005, 25 (03) : 140 - 145
  • [3] Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
    Malone, Andrew F.
    Phelan, Paul J.
    Hall, Gentzon
    Cetincelik, Umran
    Homstad, Alison
    Alonso, Andrea S.
    Jiang, Ruiji
    Lindsey, Thomas B.
    Wu, Guanghong
    Sparks, Matthew A.
    Smith, Stephen R.
    Webb, Nicholas J. A.
    Kalra, Philip A.
    Adeyemo, Adebowale A.
    Shaw, Andrey S.
    Conlon, Peter J.
    Jennette, J. Charles
    Howell, David N.
    Winn, Michelle P.
    Gbadegesin, Rasheed A.
    [J]. KIDNEY INTERNATIONAL, 2014, 86 (06) : 1253 - 1259
  • [4] Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing
    Papazachariou, Louiza
    Demosthenous, Panayiota
    Pieri, Myrtani
    Papagregoriou, Gregory
    Savva, Isavella
    Stavrou, Christoforos
    Zavros, Michael
    Athanasiou, Yiannis
    Ioannou, Kyriakos
    Patsias, Charalambos
    Panagides, Alexia
    Potamitis, Costas
    Demetriou, Kyproula
    Prikis, Marios
    Hadjigavriel, Michael
    Kkolou, Maria
    Loukaidou, Panayiota
    Pastelli, Androulla
    Michael, Aristos
    Lazarou, Akis
    Arsali, Maria
    Damianou, Loukas
    Goutziamani, Ioanna
    Soloukides, Andreas
    Yioukas, Lakis
    Elia, Avraam
    Zouvani, Ioanna
    Polycarpou, Polycarpos
    Pierides, Alkis
    Voskarides, Konstantinos
    Deltas, Constantinos
    [J]. PLOS ONE, 2014, 9 (12):
  • [5] Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis
    Pierides, Alkis
    Voskarides, Konstantinos
    Athanasiou, Yiannis
    Ioannou, Kyriacos
    Damianou, Loukas
    Arsali, Maria
    Zavros, Michalis
    Pierides, Michael
    Vargemezis, Vasilios
    Patsias, Charalambos
    Zouvani, Ioanna
    Elia, Avraam
    Kyriacou, Kyriacos
    Deltas, Constantinos
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2009, 24 (09) : 2721 - 2729
  • [6] Thin basement membrane nephropathy
    Savige, J
    Rana, K
    Tonna, S
    Buzza, M
    Dagher, H
    Wang, YY
    [J]. KIDNEY INTERNATIONAL, 2003, 64 (04) : 1169 - 1178
  • [7] COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
    Voskarides, Konstantinos
    Damianou, Loukas
    Neocleous, Vassos
    Zouvani, Ioanna
    Christodoulidou, Stalo
    Hadjiconstantinou, Valsamakis
    Ioannou, Kyriacos
    Athanasiou, Yiannis
    Patsias, Charalampos
    Alexopoulos, Efstathios
    Pierides, Alkis
    Kyriacou, Kyriacos
    Deltas, Constantinos
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2007, 18 (11): : 3004 - 3016