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NDT Plus Advance Access originally published online on March 27, 2008
NDT Plus 2008 1(3):171-175; doi:10.1093/ndtplus/sfn019
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.For Permissions, please e-mail: journals.permissions@oxfordjournals.org

End-stage renal failure associated with congenital deafness

Nicholas M P Annear1, Daniel P Gale1, Sam Loughlin2, Huw R Dorkins3 and Patrick H Maxwell1

1 Department of Nephrology, Imperial College, London
2 Molecular Genetics Laboratory, N.E. Thames Regional Genetics Service
3 N.W. Thames Regional Genetics Service, Kennedy Galton Centre, Harrow HA1 3UJ, UK

Correspondence: Nicholas M. P. Annear, Department of Nephrology, Imperial College, London, UK. E-mail: nickannear@doctors.org.uk

Key Words: Branchio-oto-renal syndrome • BOR syndrome • genetic renal disease • sensorineural deafness

Received for publication January 3, 2008. Accepted for publication February 1, 2008.

The first 10% of the full text of this article appears below.


   Introduction
 
The commonest cause of hereditary deafness associated with renal failure is the Alport syndrome, but it is important to be aware of other possible diagnoses. We report a patient presenting, at end-stage renal failure, with a family history of sensori-neural deafness, in whom the diagnosis was branchio-oto-renal (BOR) syndrome; resequencing the EYA1 gene revealed a novel mutation.


   Case history
 
A 26-year-old male was referred as an emergency to the renal service with a plasma creatinine of 1235 µmol/L. He had attended his general practitioner with a 3-week history of oral thrush, nausea, weight loss, nocturia and pruritus. He did not complain of visual problems, rash or arthralgia and was not taking any medications. His hearing had been impaired since birth, to the point that he required hearing aids from the age of 11. His mother, maternal grandfather, maternal aunt and uncle, and a brother were also deaf (Figure 1. . . [Full Text of this Article]


   Discussion
 

   Conclusions
 
Teaching points

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