NDT Advance Access originally published online on July 27, 2004
Nephrology Dialysis Transplantation 2004 19(10):2429-2432; doi:10.1093/ndt/gfh435
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Nephrol Dial Transplant Vol. 19 No. 10 © ERA-EDTA 2004; all rights reserved
Editorial Comment
Collagen type IV (
3–4) nephropathy: from isolated haematuria to renal failure
Fundació Puigvert, Barcelona, Spain
Correspondence and offprint requests to: Dr Roser Torra, Hereditary Renal Diseases, Nephrology Department, Fundació Puigvert. Cartagena 340-350, 08025 Barcelona, Spain. Email: rtorra@fundacio-puigvert.es
Keywords: Alport; haematuria; collogen type IV (
3, 4); genes; glomerular basement membrane; autosomal
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Introduction |
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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 haematuria to severe renal failure. This disorder has been traditionally considered to be different entities, 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.
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Clinical spectrum of collagen IV (3–4) nephropathy
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Mild phenotype: benign familial haematuria
Several terms have been used to define the clinical entity consisting of persistent microhaematuria, minimal proteinuria, normal renal function, uniformly thinned GBM and family history of haematuria with an autosomal dominant pattern of inheritance: ‘thin basement membrane disease’, ‘benign persistent haematuria’, ‘benign essential haematuria’ and ‘benign familial haematuria’. The term ‘thin basement membrane disease’ reflects an underlying ultrastructural
Intermediate phenotype
Severe phenotype: Alport's syndrome
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Collagen type IV (3–4) nephropathy as a common denominator for Alport syndrome and familial haematuria
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Conclusion |
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