Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Pediatrics. 2013 Jan;131(1):e327-30. doi: 10.1542/peds.2012-0030. Epub 2012 Dec 3.
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.
迟发性鸟氨酸转氨甲酰酶（OTC）缺乏症在青少年时期突然发生代谢危象之前几乎没有症状。本研究专注于 OTC 缺乏症的凝血异常。我们收集了日本九州大学医院 OTC 缺乏症患者的凝血实验室数据，或从之前的文章中报告的病例中收集数据。分析了在首次代谢发作时入住九州大学医院或在医院门诊就诊的 5 例迟发性 OTC 缺乏症患者，并纳入了之前文章中 3 例伴凝血异常的 OTC 缺乏症病例。结果显示，这些患者在代谢发作时血氨水平显著升高，凝血酶原时间远低于正常水平。尽管血氨、血清天冬氨酸转氨酶和丙氨酸转氨酶几乎恢复正常，但凝血酶原时间仍显著异常。在缓解期，凝血异常是 OTC 缺乏症的一种以前未被识别的并发症。这些信息将有助于在致命的代谢危象发生之前识别青少年时期的 OTC 缺乏症患者。
