Case of cholangiocellular carcinoma in a patient with glycogen storage disease type Ia.

Abstract

Glycogen storage disease (GSD) type Ia is caused by a deficiency in glucose-6-phosphatase. Long-term complications, including renal disease, gout, osteoporosis and pulmonary hypertension, develop in patients with GSD type Ia. In the second or third decade, 22-75% of GSD type Ia patients develop hepatocellular adenoma (HCA). In some of these patients, the HCA evolves into hepatocellular carcinoma. However, little is known about GSD type Ia patients with HCA who develop cholangiocellular carcinoma (CCC). Here, we report for the first time, a patient with GSD type Ia with HCA, in whom intrahepatic CCC was developed.

• Authors: Hiroyuki Kanamori, Yukiomi Nakade, Takaya Yamamoto, Yuji Kobayashi, Ken Sato, Kiyoaki Ito, Tomohiko Ohashi, Noiku Nakao, Norimitsu Ishii, Emiko Takahashi, Toyoharu Yokoi, Haruhisa Nakao, Tsuyoshi Kurokawa, Chikara Yamaguchi, Masashi Yoneda
• Journal: Hepatology research : the official journal of the Japan Society of Hepatology (Hepatol Res) Vol. 45 Issue 4 Pg. 494-9 (Apr 2015) ISSN: 1386-6346 [Print] Netherlands
• PMID: 24905794 (Publication Type: Journal Article)
• Copyright: © 2014 The Japan Society of Hepatology.