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NDT Advance Access originally published online on December 29, 2005
Nephrology Dialysis Transplantation 2006 21(6):1705-1709; doi:10.1093/ndt/gfk013
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© The Author [2005]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Case Report

Oral–facial–digital syndrome type 1, Caroli's disease and cystic renal disease

Omer Toprak1,2, Atilla Uzum1, Mustafa Cirit1, Ertap Esi3, Ayca Inci4, Rifki Ersoy1, Mehmet Tanrisev1, Ercan Ok5 and Brunella Franco6

1 Department of Nephrology, 3 Department of Radiology, 4 Department of First Internal Medicine, Ataturk Training and Research Hospital, and 5 Department of Nephrology, Medical School of Ege University, Izmir, Turkey, 2 Department of Medicine, Division of Nephrology, Vanderbilt University School of Medicine, Nashville, TN, USA and 6 Telethon Institute of Genetics and Medicine, Naples, Italy

Correspondence and offprint requests to: Omer Toprak, MD, Vanderbilt University Medical Center, Division of Nephrology, 1161 21st Avenue South and Garland, S-3223 MCN, Nashville, TN 37232-2372 USA. Email: info@omertoprak.com

Keywords: Caroli's disease; end-stage renal failure; renal cyst; oral–facial–digital syndrome type 1

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



   Introduction
 
A number of renal diseases may be accompanied by malformation syndromes. Oral–facial–digital syndrome type 1 (OFD1) is a rare disorder and involves malformations of the face, oral cavity, hands and feet. It is transmitted as an X-linked dominant condition with lethality in males. Cystic kidney disorders are a recognized feature of OFD1 [1–5]. Caroli's disease is characterized by multifocal segmental dilatation of intrahepatic bile ducts [6,7]. A case of OFD1, associated with cystic renal disease and Caroli's disease, and complicated by end-stage renal failure, is reported here. To our knowledge, Caroli's disease has not been reported previously in OFD1.



   Mutation analysis
 
To test the possible involvement of OFD1, we studied the total genomic DNA by DHPLC analysis on the 23 coding exons that are required to code for the OFD1 transcript. The corresponding polymerase chain reaction (PCR) product was analysed by direct sequencing on both the . . . [Full Text of this Article]



   Case
 


   Discussion
 

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