摘要

OBJECTIVE:Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.
METHODS:This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years.
RESULTS:The mean cognitive standard deviation score (cSDS) was lower in symptomatic than in asymptomatic (p < 0.001, t test) individuals with UCDs. Intellectual disability (intellectual quotient < 70, cSDS < -2.0) was associated with the respective subtype of UCD and early disease onset, whereas height of the initial peak plasma ammonium concentration was inversely associated with neurocognitive outcomes in mitochondrial (proximal) rather than cytosolic (distal) UCDs. In ornithine transcarbamylase and argininosuccinate synthetase 1 deficiencies, we did not find evidence that monoscavenger therapy with sodium or glycerol phenylbutyrate was superior to sodium benzoate in providing cognitive protection. Early liver transplantation appears to be beneficial for UCDs. It is noteworthy that individuals with argininosuccinate synthetase 1 and argininosuccinate lyase deficiencies identified by newborn screening had better neurocognitive outcomes than those diagnosed after the manifestation of first symptoms.
INTERPRETATION:Cognitive function is related to interventional and non-interventional variables. Early detection by newborn screening and early liver transplantation appear to offer greater cognitive protection, but none of the currently used nitrogen scavengers was superior with regard to long-term neurocognitive outcome. Further confirmation could determine these variables as important clinical indicators of neuroprotection for individuals with UCDs. ANN NEUROL 2019.

译文

目的: 尿素循环障碍 (ucd) 患者通常存在智力和发育障碍。本研究的主要目的是评估诊断和治疗干预对 ucd 认知结果的影响。
方法: 这项前瞻性、观察性、多中心研究包括来自 503 名患有 UCDs 的个人的数据,这些人接受了全面的神经认知测试,累计随访了 702 名患者-年。
结果: 有症状者的平均认知标准差得分 (cSDS) 低于无症状者 (p <0.001,t检验)。智力障碍 (智力商 <70,cSDS <-2.0) 与相应的 UCD 亚型和早期发病相关, 而初始血浆铵浓度峰值的高度与线粒体 (近端) 而不是胞质 (远端) ucd 的神经认知结果呈负相关。在鸟氨酸氨基转移酶和精氨酸琥珀酸合成酶 1 缺乏中,我们没有发现苯丁酸钠或丙三醇单药治疗优于苯甲酸钠提供认知保护的证据。早期肝移植似乎对 ucd 有益。值得注意的是,通过新生儿筛查发现的精氨酸琥珀酸合成酶 1 和精氨酸琥珀酸裂解酶缺乏的个体比那些在首次症状表现后诊断的个体具有更好的神经认知结果。
解释: 认知功能与介入和非介入变量有关。通过新生儿筛查和早期肝移植的早期检测似乎提供了更大的认知保护,但是目前使用的氮清除剂没有一种在长期神经认知结果方面更好。进一步的确认可以确定这些变量作为 ucd 个体神经保护的重要临床指标。ANN NEUROL 2019。

Urea cycle disorders

肾内泌尿 遗传性疾病 疾病
概述  :  

尿素循环系统疾病(UCD)是一种罕见的疾病,会导致机体难以从体内清除消化后的废物。UCD是遗传性疾病,在儿童和成人中均会发生,它可以从父级传递到子级,这些疾病是由于基因突变导致氮代谢缺陷而发展的UCD非常罕见,每3万个新生儿中就有1个发生这种情况。疾病的发作可以是新生儿发作或晚期发作。大约69%的疾病在新生儿期后发展。对于新生儿而言,该疾病将导致他们在出生后的头36-48小时内致命。 病理机制 这是从父母传给孩子的遗传疾病,婴

urea   英 /jʊˈriːə/   美 /jʊˈriːə/

释    义   n. [肥料] 尿素

例    句   This paper introduces the synthesis and usage of urea Peroxide, and analyzes its prospect. 本文介绍了过氧化尿素的合成和用途,并着重分析了其发展前景。

 

cycle   英 /ˈsaɪkl/   美 /ˈsaɪkl/

释    义   n. 循环;周期;自行车;整套;一段时间

               vt. 使循环;使轮转

               vi. 循环;骑自行车;轮转

同根词   cyclical adj. 周期的,循环的

               cycling n. 骑脚踏车消遣;骑脚踏车兜风

例    句   At the beginning of each instruction cycle, the CPU fetches an instruction from memory.在每个指令周期的开始,CPU都从内存中取一条指令。

 

disorders   美 /dɪs'ɔrdɚ/

释    义   n. 无秩序,混乱;小病(disorder的复数形式)

               v. [电子] 扰乱(disorder的单三形式)

例    句   Sleep disorders are conditions that affect how much and how well you sleep.睡眠障碍是影响你睡眠时间多少和睡眠好坏的情况。

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