First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan.

Abstract

We report the first two cases of adult-onset type II citrullinemia (CTLN2) successfully treated by liver transplantation from deceased donors in Japan. One patient was a 34-year-old female, who had suffered from depression since the age of 28 years and developed consciousness disturbance at 34 years old. The other patient was a 41-year-old man who began to experience consciousness disturbance with abnormal behavior at 37 years old. Both patients were first treated with non-surgical therapies, including low-carbohydrate diet, arginine granules and sodium pyruvate. However, their therapeutic efficacy was limited and attacks of encephalopathy occurred frequently with elevation of plasma ammonia despite treatment. While both patients and their families desired liver transplantation, no candidate donors for live-donor liver transplantation were available. Fortunately, within a relatively short period after enrollment for liver transplant from deceased donors in Japan (13 and 43 days, respectively), they underwent cadaveric liver transplantation. The clinical courses after the operation were uneventful in both cases and no attacks of hepatic encephalopathy have occurred. Although there have been no reports of good therapies for CTLN2 patients with resistance to non-surgical therapies and no live-donor candidates, our observations indicate that cadaveric liver transplantation can be a promising therapeutic option for CTLN2 patients.

• Authors: Masahide Yazaki, Akiyo Hineno, Akira Matsushima, Kazuki Ozawa, Dai Kishida, Ko-Ichi Tazawa, Kazuhiro Fukushima, Koichi Urata, Toshihiko Ikegami, Shinichi Miyagawa, Shu-Ichi Ikeda
• Journal: Hepatology research : the official journal of the Japan Society of Hepatology (Hepatol Res) Vol. 42 Issue 9 Pg. 934-9 (Sep 2012) ISSN: 1872-034X [Electronic] Netherlands
• PMID: 22882336 (Publication Type: Journal Article)
• Copyright: © 2012 The Japan Society of Hepatology.