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Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.
- 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.
- Subjects :
- Adult
Biopsy
Blood Platelets ultrastructure
Female
Hearing Loss, Sensorineural diagnosis
Humans
Kidney Failure, Chronic etiology
Kidney Failure, Chronic therapy
Male
Nephritis, Hereditary blood
Nephritis, Hereditary therapy
Peritoneal Dialysis, Continuous Ambulatory
Renal Dialysis
Retinitis Pigmentosa complications
Retinitis Pigmentosa diagnosis
Blood Platelets pathology
Hearing Loss, Sensorineural complications
Nephritis, Hereditary diagnosis
Subjects
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