Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.
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一项为期 21 年的多中心急性高氨血症研究，对 260 名尿素循环障碍患者的诊断、症状、频率和死亡率进行了分析。
DOI：
10.1111/j.1651-2227.2008.00952.x
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发表时间：
2008-10
期刊：
影响因子：
3.8
通讯作者：
Lee, Brendan
中科院分区：
文献类型：
--
作者：
Summar, Marshall L.;Dobbelaere, Dries;Brusilow, Saul;Lee, Brendan
对患有高氨血症危象的尿素循环障碍 (UCD) 患者进行了一项大型纵向介入研究，以收集有关其症状和生存情况的大量数据。 1982 年至 2003 年间，作为 FDA 批准流程的一部分，收集了接受静脉注射氮清除药物组合（Ammonul® 苯乙酸钠和苯甲酸钠，10%、10%）治疗尿素循环障碍引起的高氨血症危象的患者的数据。 260 名患者最终诊断为 UCD，代表 975 次住院治疗。这些患者中只有 34% 在出生后 30 天内就诊，死亡率为 32%。最常见的症状是神经系统症状（80%）或胃肠道症状（33%）。该队列是报告的这些疾病患者的最大集合，也是美国第一个大型队列。令人惊讶的是，大多数（66%）患有遗传性高氨血症的患者在新生儿期（>30天）之后就出现了。与新生儿组相比，晚发性疾病患者的生存期延长。
A large longitudinal interventional study of patients with a urea cycle disorder (UCD) in hyperammonaemic crisis was undertaken to amass a significant body of data on their presenting symptoms and survival. Between 1982 and 2003, as part of the FDA approval process, data were collected on patients receiving an intravenous combination of nitrogen scavenging drugs (Ammonul® sodium phenylacetate and sodium benzoate, 10%, 10%) for the treatment of hyperammonaemic crises caused by urea cycle disorders. A final diagnosis of a UCD was made for 260 patients, representing 975 episodes of hospitalisation. Only 34% of these patients presented within the first 30 days of life and had a mortality rate of 32%. The most common presenting symptoms were neurological (80%) or gastrointestinal (33%). This cohort is the largest collection of patients reported for these diseases and the first large cohort in the USA. Surprisingly, the majority (66%) of patients with heritable causes of hyperammonaemia present beyond the neonatal period (>30 days). Patients with late-onset presenting disorders exhibited prolonged survival compared to the neonatal-presenting group.
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影响因子：
5.1
作者：
Summar, M
通讯作者：
Summar, M
影响因子：
4.3
作者：
Summar, ML;Barr, F;Christman, BW
通讯作者：
Christman, BW
影响因子：
4.3
作者：
Smith, W;Kishnani, PS;Summar, M
通讯作者：
Summar, M
影响因子：
4.2
作者：
Uchino, T;Endo, F;Matsuda, I
通讯作者：
Matsuda, I
影响因子：
158.5
作者：
Enns, Gregory M.;Berry, Susan A.;Hamosh, Ada
通讯作者：
Hamosh, Ada