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Nephrol Dial Transplant (2001) 16: 1291-1294
© 2001 European Renal Association-European Dialysis and Transplant Association

Teaching Point

Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness

(Section Editor: K. Kühn)

Donald Richardson, Mike Shires and Alex M. Davison

Department of Renal Medicine, St James's University Hospital, Leeds, UK.

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.

Keywords: Alport's syndrome; Alström's syndrome; Epstein's syndrome; hereditary nephropathy; megakaryocytes; retinitis pigmentosa; sensorineural deafness

Notes

Supported by an educational grant from

Fresenius Medical Care

Correspondence and offprint requests to: Donald Richardson Department of Renal Medicine, St James's University Hospital, Leeds LS9 7TF, UK.


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