Making the diagnosis of Alport's syndrome

被引:79
作者
Pirson, Y
机构
[1] Clin Univ St Luc, Serv Nephrol, B-1200 Brussels, Belgium
[2] Catholic Univ Louvain, B-1348 Louvain, Belgium
关键词
COL4A5; gene; hereditary nephritis; type-IV collagen; hematuria; proteinuria; end-stage renal failure; glomerular basement membrane; lenticonus;
D O I
10.1046/j.1523-1755.1999.00601.x
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
[No abstract available]
引用
收藏
页码:760 / 775
页数:16
相关论文
共 93 条
[1]   Hereditary familial congenital haemorrhagic nephritis. [J].
Alport, AC .
BMJ-BRITISH MEDICAL JOURNAL, 1927, 1927 :504-506
[2]   DELETIONS IN THE COL4A5 COLLAGEN GENE IN X-LINKED ALPORT SYNDROME - CHARACTERIZATION OF THE PATHOLOGICAL TRANSCRIPTS IN NONRENAL CELLS AND CORRELATION WITH DISEASE EXPRESSION [J].
ANTIGNAC, C ;
KNEBELMANN, B ;
DROUOT, L ;
GROS, F ;
DESCHENES, G ;
HORSCAYLA, MC ;
ZHOU, J ;
TRYGGVASON, K ;
GRUNFELD, JP ;
BROYER, M ;
GUBLER, MC .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) :1195-1207
[3]  
ANTIGNAC C, 1996, MOL PATHOLOGY GENETI, P172
[4]   Renal tubular acidosis and deafness: Report of a large family [J].
Bajaj, G ;
Quan, A .
AMERICAN JOURNAL OF KIDNEY DISEASES, 1996, 27 (06) :880-882
[5]  
Barker DF, 1996, AM J HUM GENET, V58, P1157
[6]  
BARKER DF, 1996, MOL PATHOLOGY GENETI, P29
[7]  
Belmont JW, 1996, AM J HUM GENET, V58, P1101
[8]   AUTOSOMAL DOMINANT FAMILIAL HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA [J].
BILOUS, RW ;
MURTY, G ;
PARKINSON, DB ;
THAKKER, RV ;
COULTHARD, MG ;
BURN, J ;
MATHIAS, D ;
KENDALLTAYLOR, P .
NEW ENGLAND JOURNAL OF MEDICINE, 1992, 327 (15) :1069-1074
[9]  
BOBRIE G, 1998, OXFORD TXB CLIN NEPH, P2446
[10]   Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation [J].
Brainwood, D ;
Kashtan, C ;
Gubler, MC ;
Turner, AN .
KIDNEY INTERNATIONAL, 1998, 53 (03) :762-766