Kosugi Rieko, Usui Takeshi, Inoue Tatsuhide, Ariyasu Hiroyuki
Endocrinology, Diabetes and Metabolism, Shizuoka General Hospital, Shizuoka, JPN.
Medical Genetics, Shizuoka Graduate University of Public Health, Shizuoka, JPN.
Cureus. 2025 Jul 14;17(7):e87892. doi: 10.7759/cureus.87892. eCollection 2025 Jul.
Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder inherited in an X-linked manner. This report describes a case of a 27-year-old woman diagnosed with OTCD during childhood who experienced growth disturbances and an unstable clinical condition (nausea, vomiting, and hyperammonemia) despite strict dietary and pharmacological management, leading to a poor quality of life. She met the scoring criteria for liver transplantation (LT), received a living donor liver transplant (LDLT) from her mother, and is doing well post-transplant. LT is the only curative treatment available for OTCD, and recent technological advances have significantly improved outcomes in Japan. However, as female patients with OTCD were usually considered to have a mild phenotype, the induction and timing of LT are very difficult to decide. In addition, most LT in female patients with OTCD is performed in childhood; therefore, there are very few case reports of female OTCD patients with LT in adulthood. This case study provides guidance on the indications for LT in adult female OTCD patients.
鸟氨酸转氨甲酰酶缺乏症（OTCD）是一种以X连锁方式遗传的尿素循环障碍疾病。本报告描述了一例27岁女性病例，该女性在儿童时期被诊断为OTCD，尽管进行了严格的饮食和药物治疗，但仍出现生长发育障碍且临床状况不稳定（恶心、呕吐和高氨血症），导致生活质量较差。她符合肝移植（LT）的评分标准，接受了来自母亲的活体供肝肝移植（LDLT），移植后情况良好。肝移植是OTCD唯一可用的治愈性治疗方法，最近的技术进步显著改善了日本的治疗效果。然而，由于OTCD女性患者通常被认为具有轻度表型，肝移植的诱导时机和时间很难确定。此外，大多数OTCD女性患者的肝移植是在儿童期进行的；因此，成年女性OTCD患者接受肝移植的病例报告非常少。本病例研究为成年女性OTCD患者肝移植的适应症提供了指导。
