Oral–facial–digital syndrome type 1, Caroli's disease and cystic renal disease
Articles > Article · 2005
Authors: Omer Toprak, Atilla Uzum, Mustafa Cirit, Ertap Esi, Ayca Inci, Rifki Ersoy, Mehmet Tanrisev, Ercan OK, Brunella Franco
Nephrology Dialysis Transplantation, Journal Indexed in SCI Expanded, International, WoS, 2005, vol 21, pp 1705-1709
DOI: 10.1093/ndt/gfk013
Summary
1Department of Nephrology, 3Department of Radiology, 4Department of First Internal Medicine, Ataturk Training and Research Hospital, and 5Department of Nephrology, Medical School of Ege University, Izmir, Turkey, 2Department of Medicine, Division of Nephrology, Vanderbilt University School of Medicine, Nashville, TN, USA and 6Telethon Institute of Genetics and Medicine, Naples, Italy 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.