Kido Jun, Kawasaki Tatsuya, Mitsubuchi Hiroshi, Kamohara Hidenobu, Ohba Takashi, Matsumoto Shirou, Endo Fumio, Nakamura Kimitoshi
Jun Kido, Tatsuya Kawasaki, Hiroshi Mitsubuchi, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura, Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan.
World J Hepatol. 2017 Feb 28;9(6):343-348. doi: 10.4254/wjh.v9.i6.343.
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and external factors; however, the outcomes of these conditions may differ. We resuscitated a female patient with OTCD from hyperammonemic crisis after she gave birth. Hyperammonemia after parturition in a female patient with OTCD can be fatal, and this type of hyperammonemia persists for an extended period of time. Here, we describe the cause and treatment of hyperammonemia in a female patient with OTCD after parturition. Once hyperammonemia crisis occurs after giving birth, it is difficult to improve the metabolic state. Therefore, it is important to perform an early intervention before hyperammonemia occurs in patients with OTCD or in carriers after parturition.
鸟氨酸转氨甲酰酶缺乏症(OTCD)是一种X连锁疾病,估计每80000例活产中就有1例患病。患有OTCD的女性患者会出现代谢危机,这些危机很容易由不可预测的常见疾病引发,如遗传因素(私人突变和莱昂化)和外部因素;然而,这些情况的结果可能有所不同。我们成功救治了一名患有OTCD的女性患者,她在分娩后出现了高氨血症危机。患有OTCD的女性患者产后高氨血症可能是致命的,而且这种类型的高氨血症会持续很长一段时间。在此,我们描述了一名患有OTCD的女性患者产后高氨血症的病因及治疗方法。一旦产后发生高氨血症危机,很难改善代谢状态。因此,对于患有OTCD的患者或产后携带者,在高氨血症发生之前进行早期干预非常重要。