Kido Jun, Matsumoto Shirou, Ito Tetsuya, Hirose Shinichi, Fukui Kaori, Kojima-Ishii Kanako, Mushimoto Yuichi, Yoshida Shinobu, Ishige Mika, Sakai Norio, Nakamura Kimitoshi
Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Mol Genet Metab Rep. 2021 Feb 7;27:100724. doi: 10.1016/j.ymgmr.2021.100724. eCollection 2021 Jun.
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status of UCD patients in Japan regarding diagnosis, treatments, and outcomes. A total of 229 patients with UCDs (126 patients: ornithine transcarbamylase deficiency [OTCD]; 33: carbamoyl phosphate synthetase 1 deficiency [CPS1D]; 48: argininosuccinate synthetase deficiency [ASSD]; 14: argininosuccinate lyase deficiency [ASLD]; and 8: arginase 1 deficiency [ARG1D]) were enrolled in the present study. Although growth impairment is common in patients with UCDs, we discovered that Japanese patients with UCDs were only slightly shorter than the mean height of the general adult population in Japan. Patients with neonatal-onset UCDs are more likely to experience difficulty finding employment and a spouse; however, some patients with late-onset UCDs were employed and married. Additionally, intellectual and developmental disabilities, such as attention deficit hyperactivity disorder (ADHD) and autism, hinder patients with UCDs from achieving a healthy social life. Moreover, we identified that it is vital for patients with UCDs presenting with mild to moderate intellectual disabilities to receive social support. Therefore, we believe the more robust social support system for patients with UCDs may enable them to actively participate in society.
尿素循环障碍（UCDs）是导致高氨血症的遗传性代谢疾病。严重的高氨血症会对大脑产生不利影响。因此，我们在2000年1月至2018年3月期间开展了一项全国性研究，以了解日本UCD患者在诊断、治疗和预后方面的现状。本研究共纳入了229例UCD患者（126例：鸟氨酸转氨甲酰酶缺乏症[OTCD]；33例：氨甲酰磷酸合成酶1缺乏症[CPS1D]；48例：精氨琥珀酸合成酶缺乏症[ASSD]；14例：精氨琥珀酸裂解酶缺乏症[ASLD]；8例：精氨酸酶1缺乏症[ARG1D]）。尽管生长发育障碍在UCD患者中很常见，但我们发现日本的UCD患者仅略低于日本普通成年人群的平均身高。新生儿期发病的UCD患者更难找到工作和配偶；然而，一些晚发性UCD患者有工作且已婚。此外，智力和发育障碍，如注意力缺陷多动障碍（ADHD）和自闭症，阻碍了UCD患者实现健康的社会生活。此外，我们发现对于存在轻度至中度智力障碍的UCD患者来说，获得社会支持至关重要。因此，我们认为为UCD患者建立更强大的社会支持系统可能会使他们能够积极参与社会。
