Fukumoto Kohei, Sumida Yoshio, Yoshida Naohisa, Sakai Kyoko, Kanemasa Kazuyuki, Itoh Yoshito, Mitsufuji Shoji, Kataoka Keisho, Okanoue Takeshi
Department of Gastroenterology and Hepatology, Nara City Hospital.
Nihon Shokakibyo Gakkai Zasshi. 2008 Feb;105(2):244-51.
A 47-year man was hospitalized to our hospital because of consciousness disturbance. He had been abnormally fond of soy bean products since childhood. His plasma levels of ammonia and citrulline were elevated, and we suspected of adult-onset type II citrullinemia (CTLN2). Gene examination demonstrated abnormality in the SLC25A13 gene, confirming CTLN2. Serum levels of hepatobiliary enzymes were increased and his liver biopsy revealed nonalcoholic steatohepatitis. Although we considered that living donor liver transplantation was suitable for the treatment, unfortunately, there was no appropriate donor candidate in his family. He has received conservative treatments, showing a symptom-free course.
一名47岁男性因意识障碍入住我院。他自幼异常喜爱豆制品。其血浆氨和瓜氨酸水平升高，我们怀疑为成人发作型II型瓜氨酸血症（CTLN2）。基因检测显示SLC25A13基因异常，确诊为CTLN2。血清肝胆酶水平升高，肝脏活检显示非酒精性脂肪性肝炎。尽管我们认为活体肝移植适合该治疗，但不幸的是，其家族中没有合适的供体候选人。他接受了保守治疗，目前病情无进展。
