Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders
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DOI：
10.1111/petr.12987
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发表时间：
2017-09-01
影响因子：
1.3
通讯作者：
Nakamura, Kimitoshi
中科院分区：
文献类型：
--
作者：
Kido, Jun;Matsumoto, Shirou;Nakamura, Kimitoshi
UCD是日本最常见的遗传性代谢疾病之一。我们调查了1999年1月至2009年3月在日本接受评估和治疗的177例UCD患者的临床表现、治疗和并发症，采用问卷调查。在这177例患者中，42例（7例氨甲酰磷酸合成酶1缺乏症，27例鸟氨酸转氨甲酰酶缺乏症，7例氨基琥珀酸合成酶缺乏症，1例脱氢酶1缺乏症）接受了活体供者LT。尽管本研究是回顾性的，包括LT前后有限的神经发育信息，但我们评估了LT是否可以改善UCD患者的神经发育结局。神经发育的结果与MAC的患者
UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT. Although this study was retrospective and included limited neurodevelopmental information before and after LT, we evaluated whether LT could improve neurodevelopmental outcomes in patients with UCDs. The neurodevelopmental outcomes of patients with a MAC of