The genetic basis of human glomerular disease

被引:18
作者
Möller, CC
Pollak, MR
Reiser, J
机构
[1] Brigham & Womens Hosp, Div Renal, Dept Med, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Boston, MA 02115 USA
[3] Massachusetts Gen Hosp, Div Nephrol, Dept Med, Boston, MA 02114 USA
基金
美国国家卫生研究院;
关键词
hereditary diseases; glomerulonephritis; nephrotic syndrome; proteinuria; podocytes;
D O I
10.1053/j.ackd.2006.01.009
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
Clinical and molecular research aimed to understand glomerular disease has emerged to one of the most active areas in renal research at large. The unraveling of genetic causes resulting in proteinuria has helped to define roles for each component of the glomerular filtration barrier in the development of urinary protein loss. Although most of the inherited glomerular diseases have in common defects in the podocyte, the glomerular basement membrane is also of critical importance for normal kidney permselectivity. This review summarizes recent progress in the eludication of genetic causes of glomerular disease and discusses their implications for the understanding of the pathogenic mechanisms, which can lead to disruption of the glomerular filtration barrier. (c) 2006 by the National Kidney Foundation, Inc.
引用
收藏
页码:166 / 173
页数:8
相关论文
共 17 条
[1]   Podocyte injury and targeting therapy: an update [J].
Durvasula, RV ;
Shankland, SJ .
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION, 2006, 15 (01) :1-7
[2]  
Gangarossa S, 2005, INT J MOL MED, V16, P437
[3]   Respiratory chain deficiency presenting as congenital nephrotic syndrome [J].
Goldenberg, A ;
Ngoc, LH ;
Thouret, MC ;
Cormier-Daire, V ;
Gagnadoux, MF ;
Chrétien, D ;
Lefrançois, C ;
Geromel, V ;
Rötig, A ;
Rustin, P ;
Munnich, A ;
Paquis, V ;
Antignac, C ;
Gubler, MC ;
Niaudet, P ;
de Lonlay, P ;
Bérard, E .
PEDIATRIC NEPHROLOGY, 2005, 20 (04) :465-469
[4]   CD2-associated protein (CD2AP) expression in podocytes rescues lethality of CD2AP deficiency [J].
Grunkemeyer, JA ;
Kwoh, C ;
Huber, TB ;
Shaw, AS .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (33) :29677-29681
[5]   The slit diaphragm: a signaling platform to regulate podocyte function [J].
Huber, TB ;
Benzing, T .
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION, 2005, 14 (03) :211-216
[6]   Slow progressive FSGS associated with an F392L WT1 mutation [J].
Kaltenis, P ;
Schumacher, V ;
Jankauskiene, A ;
Laurinavicius, A ;
Royer-Pokora, B .
PEDIATRIC NEPHROLOGY, 2004, 19 (03) :353-356
[7]   Familial hematurias: what we know and what we don't [J].
Kashtan, CE .
PEDIATRIC NEPHROLOGY, 2005, 20 (08) :1027-1035
[8]   CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility [J].
Kim, JM ;
Wu, H ;
Green, G ;
Winkler, CA ;
Kopp, JB ;
Miner, JH ;
Unanue, ER ;
Shaw, AS .
SCIENCE, 2003, 300 (5623) :1298-1300
[9]   Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis [J].
Löwik, MM ;
Hol, FA ;
Steenbergen, EJ ;
Wetzels, JFM ;
van den Heuvel, LPWJ .
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2005, 20 (02) :336-341
[10]   Building the glomerulus: A matricentric view [J].
Miner, JH .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2005, 16 (04) :857-861