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Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.

Authors :
Richardson D
Shires M
Davison AM
Source :
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2001 Jun; Vol. 16 (6), pp. 1291-4.
Publication Year :
2001

Abstract

Two examples of hereditary nephropathy within the context of clinical syndromes are described. Emphasis is put on the ability to make a renal diagnosis without renal biopsy and the benefits of screening relatives once a diagnosis is achieved. A variant of Alport's syndrome with associated macrothrombocytic thrombocytopenia, known as Epstein's syndrome, is reported. In addition siblings with Alström's syndrome characterized by pigmentary retinal degeneration (causing blindness in early childhood), progressive sensorineural hearing loss, and progressive renal failure are reported. Both cases had previously presented for non-renal pathology in advance of the onset of symptomatic renal failure and may have benefited from appropriate screening.

Details

Language :
English
ISSN :
0931-0509
Volume :
16
Issue :
6
Database :
MEDLINE
Journal :
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Publication Type :
Academic Journal
Accession number :
11390739
Full Text :
https://doi.org/10.1093/ndt/16.6.1291