Literature DB >> 11390739

Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.

D Richardson1, M Shires, A M Davison.   

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.

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Mesh:

Year:  2001        PMID: 11390739     DOI: 10.1093/ndt/16.6.1291

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


  4 in total

1.  Alström syndrome: genetics and clinical overview.

Authors:  Jan D Marshall; Pietro Maffei; Gayle B Collin; Jürgen K Naggert
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236

2.  End-stage renal failure associated with congenital deafness.

Authors:  Nicholas M P Annear; Daniel P Gale; Sam Loughlin; Huw R Dorkins; Patrick H Maxwell
Journal:  NDT Plus       Date:  2008-03-27

3.  Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation.

Authors:  Hilal Uslu Toygar; Okan Toygar; Esra Guzeldemir; Ulkem Cilasun; Ahmet Nacar; Nebil Bal
Journal:  J Appl Oral Sci       Date:  2009 Nov-Dec       Impact factor: 2.698

4.  An unusual cause of renal failure; Epstein syndrome.

Authors:  Manish R Balwani; Divyesh P Engineer; Manoj R Gumber; Vivek B Kute; Rajesh Singh; Himanshu V Patel; Aruna V Vanikar; Dinesh Gera; Pankaj R Shah; Hargovind L Trivedi
Journal:  J Nephropharmacol       Date:  2015-11-14
  4 in total

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