Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
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DOI：
10.1016/j.jpeds.2013.12.024
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发表时间：
2014-04
影响因子：
5.1
通讯作者：
Sokol, Ronald J.
中科院分区：
文献类型：
--
作者：
Gallagher, Renata C.;Lam, Christina;Wong, Derek;Cederbaum, Stephen;Sokol, Ronald J.
确定鸟氨酸转氨甲酰酶缺乏症（OTCD）（最常见的尿素循环缺陷（UCD））患者发生严重肝损伤和急性肝衰竭（ALF）的频率。进行了一项历史队列研究。在两个中心审查了图表，以评估71名OTCD患者中有ALF（INR ≥ 2.0）、肝功能障碍（INR 1.5-1.99）或肝细胞损伤（AST/ALT≥ 250 IU/L）证据的比例。在49例有症状的OTCD患者中，57%有肝脏受累：29%符合ALF标准，20%有肝功能障碍，8%有孤立性肝细胞损伤。ALF的比例在更严重的OTCD患者中最高，包括氨水平显著升高（> 1，000 μmol/L）的新生儿。部分严重肝脏受累患者（INR ≥ 2.0且AST/ALT > 1,000 IU/L）仅出现中度高氨血症（100 - 400 μmol/L）。ALF是49例有症状OTCD患者中至少3例的OTCD初始症状。肝细胞损伤、肝功能障碍和ALF的发作在高比例的有症状OTCD个体中被确定。受影响更严重的OTCD患者发生ALF的可能性更高。不明原因的ALF、肝功能障碍或肝细胞损伤应考虑UCD的诊断。
To determine the frequency of significant liver injury and acute liver failure (ALF) in patients with ornithine transcarbamylase deficiency (OTCD), the most common urea cycle defect (UCD). A historical cohort study was performed. Charts were reviewed at two centers to assess the proportion of 71 individuals with OTCD who had evidence of ALF (INR ≥ 2.0), liver dysfunction (INR 1.5–1.99), or hepatocellular injury (AST/ALT≥ 250 IU/L). 57% of the 49 patients with symptomatic OTCD had liver involvement: 29% met the criteria for ALF, 20% had liver dysfunction, and 8% had isolated hepatocellular injury. The proportion with ALF was greatest in those with more severe OTCD, including neonates with markedly elevated ammonia levels (> 1,000 μmol/L). Some patients with severe liver involvement (INR ≥ 2.0 and AST/ALT > 1,000 IU/L) had only moderate hyperammonemia (100 – 400 μmol/L). ALF was the initial presenting symptom of OTCD in at least 3 of 49 symptomatic OTCD patients. Episodes of hepatocellular injury, liver dysfunction, and ALF were identified in a high proportion of individuals with symptomatic OTCD. The more severely affected OTCD patients had a higher likelihood of ALF. The diagnosis of a UCD should be considered in unexplained ALF, liver dysfunction or hepatocellular injury.
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影响因子：
2
作者：
Celik, Ozlem;Buyuktas, Deram;Acbay, Ozer
通讯作者：
Acbay, Ozer
影响因子：
4.2
作者：
COSKUN, T;OZALP, I;KNEER, J
通讯作者：
KNEER, J
影响因子：
5.2
作者：
LEVIN, B;DOBBS, RH;PALMER, T
通讯作者：
PALMER, T
影响因子：
4.2
作者：
Clayton, PT
通讯作者：
Clayton, PT
影响因子：
13.5
作者：
Badizadegan, K;PerezAtayde, AR
通讯作者：
PerezAtayde, AR