Skip Navigation LinksHome > May 2014 - Volume 36 - Issue 4 > Dyskeratosis Congenita Complicated by Hepatic Fibrosis With...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0000000000000001
Clinical and Laboratory Observations

Dyskeratosis Congenita Complicated by Hepatic Fibrosis With Hepatic Vein Thrombosis

Yoshida, Hideki MD, PhD*; Imamura, Toshihiko MD, PhD*; Sakamoto, Kenichi MD*; Asai, Daisuke MD*; Nakatani, Takuya MD, PhD; Morimoto, Akira MD, PhD; Hosoi, Hajime MD, PhD*

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Abstract

We describe the case of 2 male siblings with dyskeratosis congenita (DC). Extensive genetic analysis failed to identify a causative genetic abnormality. The elder brother developed hepatic fibrosis accompanied with hepatic vein thrombosis at the age of 9 years. Recent studies have found that patients with DC sometimes develop hepatic complications, including cirrhosis. However, little is known about hepatic complications in patients with DC who lack these mutations. Further genetic studies are required to understand the relationship between DC and hepatic complications. In addition, although danazol can sometimes be effective for treating bone marrow failure, hepatotoxicity can be a major complication. Therefore, when danazol is administered to patients with DC, careful monitoring for hepatic complications is important.

Copyright © 2013 by Lippincott Williams & Wilkins

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