Genetic basis of congenital nephrotic syndrome

被引：1
作者：
Finn, LS
机构：
[1] Childrens Hosp & Med Ctr, Dept Labs, Seattle, WA 98105 USA
[2] Univ Washington, Dept Pathol, Seattle, WA 98195 USA
来源：
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 2003年 / 6卷 / 06期
关键词：
finnish; nephrin; nephrotic syndrome; podocyte;
D O I：
10.1007/s10024-003-2345-x
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
A young girl presented at 1 month of age with nephrotic syndrome. By incorporating clinical and pathologic data, the diagnosis of congenital nephrotic syndrome, Finnish type, was made. The differential diagnosis of early onset nephrotic syndrome, as it pertains to this patient is discussed. This article highlights recently discovered glomerular filtration proteins and their relationship to the pathophysiology of inherited kidney disease.
引用
收藏
页码：585 / 591
页数：7
相关论文
共 31 条
[1]   Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome [J].
Beltcheva, O ;
Martin, P ;
Lenkkeri, U ;
Tryggvason, K .
HUMAN MUTATION, 2001, 17 (05) :368-373
[2]   NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome [J].
Boute, N ;
Gribouval, O ;
Roselli, S ;
Benessy, F ;
Lee, H ;
Fuchshuber, A ;
Dahan, K ;
Gubler, MC ;
Niaudet, P ;
Antignac, C .
NATURE GENETICS, 2000, 24 (04) :349-354
[3]  
Caridi G, 2001, J AM SOC NEPHROL, V12, P2742, DOI 10.1681/ASN.V12122742
[4]   Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome [J].
Doublier, S ;
Ruotsalainen, V ;
Salvidio, G ;
Lupia, E ;
Biancone, L ;
Conaldi, PG ;
Reponen, P ;
Tryggvason, K ;
Camussi, G .
AMERICAN JOURNAL OF PATHOLOGY, 2001, 158 (05) :1723-1731
[5]  
Finn LS, 2001, MODERN PATHOL, V14, p5P
[6]   MAPPING A GENE (SRN1) TO CHROMOSOME 1Q25-Q31 IN IDIOPATHIC NEPHROTIC SYNDROME CONFIRMS A DISTINCT ENTITY OF AUTOSOMAL RECESSIVE NEPHROSIS [J].
FUCHSHUBER, A ;
JEAN, G ;
GRIBOUVAL, O ;
GUBLER, MC ;
BROYER, M ;
BECKMANN, JS ;
NIAUDET, P ;
ANTIGNAC, C .
HUMAN MOLECULAR GENETICS, 1995, 4 (11) :2155-2158
[7]  
Habib R, 1993, Adv Nephrol Necker Hosp, V22, P43
[8]   NEPHROTIC SYNDROME IN THE 1ST YEAR OF LIFE [J].
HABIB, R .
PEDIATRIC NEPHROLOGY, 1993, 7 (04) :347-353
[9]  
HALLMAN N, 1956, ANN PEDIAT FENN, V54, P227
[10]   Interaction with podocin facilitates nephrin signaling [J].
Huber, TB ;
Köttgen, M ;
Schilling, B ;
Walz, G ;
Benzing, T .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (45) :41543-41546
1234