Urea cycle defects:: Management and outcome
Urea cycle defects:: Management and outcome
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DOI：
10.1007/s10545-005-0303-7
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发表时间：
2005-01-01
影响因子：
4.2
通讯作者：
Saudubray, J
中科院分区：
文献类型：
--
作者：
Nassogne, M;Héron, B;Saudubray, J
本文回顾了 217 例尿素循环缺陷患者的临床表现，其中包括 121 例新生儿型尿素循环缺陷患者和 96 例晚发型尿素循环缺陷患者。这些患者的长期结果也与这些疾病的新生儿形式的严重程度有关，主要是鸟氨酸氨基甲酰转移酶缺陷的男性。晚发型患者可能出现在任何年龄，死亡率为 28%，并有随后致残的风险。
This paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal-onset forms and 96 patients with late-onset forms. Long-term outcome of these patients is also reported with the severity of the neonatal forms of these disorders, mostly for ornithine carbamoyltransferase-deficient males. Patients with late-onset forms may present at any age and carry a 28% mortality rate and a subsequent risk of subsequent disabilities.