[Collagen IV (alpha3-alpha4) nephropathy].
Recent evidence has shown that the COL4A3, COL4A4 and COL4A5 genes are involved in different renal manifestations. Mutations in these collagen type IV genes affect the glomerular basement membrane (GBM) giving rise to a nephropathy whose symptoms range from isolated hematuria to severe renal failure. This disorder has been traditionally considered to be different entities: Autosomal Dominant Alport syndrome, Familial Benign Hematuria, Autosomal Recessive Alport Syndrome carriers. But the increased knowledge of the molecular basis of this clinical diversity prompted us to agglutinate these entities under the name of "collagen type IV nephropathy". This fact has relevant implications in diagnosis, prognosis and management.
Torra
R
R
Servicio de Nefrología, Fundació Puigvert, Cartagena, 340-350 08025, Barcelona.
Tazón
B
B
Ars
E
E
Ballarín
J
J
D000328:Adult; D001485:Basement Membrane; D024141:Collagen Type IV; D005260:Female; D006417:Hematuria / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007678:Kidney Glomerulus; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis
C466620:COL4A4 protein, human; D024141:Collagen Type IV