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
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.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Keywords: | Adult, Biopsy, Blood Platelets, Female, Hearing Loss, Sensorineural, Humans, Kidney Failure, Chronic, Male, Nephritis, Hereditary, Peritoneal Dialysis, Continuous Ambulatory, Renal Dialysis, Retinitis Pigmentosa |
Dates: |
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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: | 04 Nov 2016 01:11 |
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 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:43854 |