Suzuki Hiroyuki, Kawamura Yusuke, Kinowaki Keiichi, Akuta Norio, Kasuya Kayoko, Fujiyama Shunichiro, Sezaki Hitomi, Hosaka Tetsuya, Saitoh Satoshi, Kobayashi Masahiro, Kobayashi Mariko, Arase Yasuji, Ikeda Kenji, Suzuki Fumitaka, Suzuki Yoshiyuki, Kumada Hiromitsu
Department of Hepatology, Toranomon Hospital, Japan.
Department of Pathology, Toranomon Hospital, Japan.
Intern Med. 2019 Jul 1;58(13):1891-1895. doi: 10.2169/internalmedicine.2374-18. Epub 2019 Feb 25.
Adult-onset type II citrullinemia (CTLN2) is a urea cycle disease characterized by neurological and psychiatric abnormalities associated with hyperammonemia. One of the pathological features of CTLN2 is the presence of hepatocyte steatosis. The condition progresses in almost all CTLN2 patients to nonalcoholic fatty liver disease (NAFLD). We herein report a 74-year-old woman who developed CTLN2 without hepatocyte steatosis. The diagnosis was based on clinical and laboratory findings and confirmed by two liver biopsies conducted within 7 years, as well as by a DNA analysis, which demonstrated mutations in the SLC25A13 gene. We describe a rare CTLN2 case without hepatocyte steatosis in an elderly woman who responded well to a low-carbohydrate diet.
成人迟发型II型瓜氨酸血症（CTLN2）是一种尿素循环障碍疾病，其特征为与高氨血症相关的神经和精神异常。CTLN2的病理特征之一是肝细胞脂肪变性。几乎所有CTLN2患者的病情都会发展为非酒精性脂肪性肝病（NAFLD）。我们在此报告一名74岁女性，她患CTLN2但无肝细胞脂肪变性。诊断基于临床和实验室检查结果，并通过7年内进行的两次肝活检以及DNA分析得到证实，DNA分析显示SLC25A13基因存在突变。我们描述了一名老年女性中罕见的无肝细胞脂肪变性的CTLN2病例，该患者对低碳水化合物饮食反应良好。
