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Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.

Richardson, D, Shires, M and Davison, AM (2001) Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness. Nephrology Dialysis Transplantation, 16 (6). 1291 - 1294 . ISSN 0931-0509


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.

Item Type: Article
Keywords: Adult, Biopsy, Blood Platelets, Female, Hearing Loss, Sensorineural, Humans, Kidney Failure, Chronic, Male, Nephritis, Hereditary, Peritoneal Dialysis, Continuous Ambulatory, Renal Dialysis, Retinitis Pigmentosa
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 16 Apr 2012 10:59
Last Modified: 15 Sep 2014 03:40
Published Version: http://dx.doi.org/10.1093/ndt/16.6.1291
Status: Published
Publisher: Oxford University Press
Identification Number: 10.1093/ndt/16.6.1291
URI: http://eprints.whiterose.ac.uk/id/eprint/43854

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