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NDT Advance Access originally published online on September 23, 2006
Nephrology Dialysis Transplantation 2007 22(1):272-275; doi:10.1093/ndt/gfl548
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© The Author [2006]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East

Mohammad Reza Ardalan1, Mohammadali Mohajel Shoja2 and Sari Kiuru-Enari3

1Department of Nephrology, 2Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran and 3Department of Neurology, University of Helsinki, Helsinki University Central Hospital, Finland

Correspondence and offprint requests to: Mohammad Reza Ardalan, MD, Assistant Professor, Department of Nephrology, Tabriz University of Medical Sciences (TUMS), Tabriz, Iran. Email: ardalanm@tbzmed.ac.ir

Keywords: amyloidosis; gelsolin; Iran; mutation; nephrotic syndrome; retinitis pigmentosa

The first 150 words of the full text of this article appear below.



   Introduction
 
Several genetic mutations are associated with nephrotic syndrome, including those of genes producing proteins nephrin, podocin, alpha actinin-4, an adapter protein anchoring CD-2, canonical transient receptor potential-6 and laminin beta-2 [1]. A G654A gelsolin gene mutation has also been found to be associated with severe nephrotic syndrome in homozygote patients [2]. Such a mutation results in the formation of a conformationally abnormal gelsolin protein [3,4]. Impaired gelsolin function together with the generation of the amyloidogenic peptides by the cleavage of the mutant gelsolin causes a constellation of manifestations referred to as gelsolin-related amyloidosis, AGel amyloidosis or originally as familial amyloidosis, Finnish type [5]. The authors believe that referring to this disease as being solely an amyloidosis undermines some of its important pathogenic aspects. Because impaired gelsolin function is thought to play a critical role, even before amyloidogenesis, in the course . . . [Full Text of this Article]



   Case report
 


   Discussion
 

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Nephrol. Dial. Transplant., March 1, 2008; 23(3): 1071 - 1071.
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Home page
 Nephrol Dial TransplantHome page
M. R. Ardalan and M. M. Shoja
Reply
Nephrol. Dial. Transplant., March 1, 2008; 23(3): 1071 - 1072.
[Full Text] [PDF]