Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.
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.
Richardson
D
D
Department of Renal Medicine, St James's University Hospital, Leeds LS9 7TF, UK.
Shires
M
M
Davison
A M
AM
D000328:Adult; D001706:Biopsy; D001792:Blood Platelets / Q000473:pathology* / Q000648:ultrastructure; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy; D008297:Male; D009394:Nephritis, Hereditary / Q000097:blood / Q000175:diagnosis* / Q000628:therapy; D010531:Peritoneal Dialysis, Continuous Ambulatory; D006435:Renal Dialysis; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis