Coagulopathy in Patients With Late-Onset Ornithine Transcarbamylase Deficiency in Remission State: A Previously Unrecognized Complication
Coagulopathy in Patients With Late-Onset Ornithine Transcarbamylase Deficiency in Remission State: A Previously Unrecognized Complication
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DOI：
10.1542/peds.2012-0030
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发表时间：
2013-01-01
期刊：
影响因子：
8
通讯作者：
Hara, Toshiro
中科院分区：
文献类型：
--
作者：
Ihara, Kenji;Yoshino, Makoto;Hara, Toshiro
晚发型的鸟氨酸转氨甲酰酶（OTC）缺乏症在青春期突然发生代谢危机之前几乎没有症状。本研究主要关注OTC缺乏引起的凝血功能障碍。我们从日本九州大学医院的OTC缺乏患者或以前文章报告的病例中收集了关于凝血的实验室数据。分析了5例迟发性OTC缺乏症患者，这些患者在第一次代谢发作时入住九州大学医院或在医院门诊就诊，并纳入了既往文章中的3例OTC缺乏症伴凝血功能障碍的病例。结果，这些患者的血氨水平在代谢发作时显著升高，凝血酶原时间远低于正常水平。尽管血氨、血清天冬氨酸氨基转移酶和丙氨酸氨基转移酶水平几乎正常，但凝血酶原时间在缓解时仍显著异常。凝血异常是OTC缺乏缓解期的一种以前未发现的并发症。这些信息将有助于在青春期发生致命代谢危机之前识别OTC缺乏症患者。儿科2013; 131：e327-e330
The late-onset type of ornithine transcarbamylase (OTC) deficiency is almost asymptomatic before an abrupt onset of metabolic crisis in adolescence. This study focused on coagulopathy in OTC deficiency. We collected laboratory data regarding coagulation from OTC-deficient patients in Kyushu University Hospital in Japan or from cases reported from previous articles. Five patients with late-onset OTC deficiency, admitted to Kyushu University Hospital at the first metabolic attack or who presented at the outpatient clinic in the hospital, were analyzed, and 3 additional cases of OTC deficiency with coagulopathy in previous articles were included. As a result, the blood ammonia levels in these patients were remarkably high at the time of the metabolic attack, and prothrombin times were far below the normal level. The prothrombin times remained significantly abnormal on remission, despite almost normal levels of blood ammonia, serum aspartate aminotransferase, and alanine aminotransferase. Coagulation abnormality is a previously unidentified complication of OTC deficiency in remission state. This information will aid in the identification of patients with OTC deficiency before a lethal metabolic crisis occurs during adolescence. Pediatrics 2013; 131:e327-e330