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[一例老年患者成人起病的II型瓜氨酸血症病例]

[A case of adult-onset type II citrullinemia in an elderly patient].

作者信息

Kitaoka Mayuko, Sakaeda Hiroshi, Suzuki Mika, Miki Toshifumi, Saito Junko, Chikamori Masayasu, Tomita Hideharu, Ichikawa Hiromoto, Yoshimoto Kaori, Takamatsu Masahiro, Okada Mitsuo, Aono Rei, Enzan Hideaki, Miyamoto Takako

机构信息

Department of Gastroenterology, Chikamori Hospital, Japan.

出版信息

Nihon Shokakibyo Gakkai Zasshi. 2013 Mar;110(3):432-40.

Abstract

A 72-year-old man presented with consciousness disturbance. The results of brain magnetic resonance imaging and cerebrospinal fluid examination were normal, but triphasic waves were noted on electroencephalography. His plasma ammonia level was elevated due to which encephalopathy secondary to hyperammonemia was suspected. However, his liver function was normal, and no evidence of cirrhosis or portal-systemic shunt was noted. The patient's medical history revealed that he had a tendency to excessively consume pulse products since childhood, and an amino acid analysis showed elevation of citrulline and arginine levels. Thus, we diagnosed the patient with an extremely rare case of adult-onset type II citrullinemia, which was triggered by cessation of the intake of pulse foods (soybeans and peanuts) due to dental problems.

摘要

一名72岁男性出现意识障碍。脑磁共振成像和脑脊液检查结果正常,但脑电图显示有三相波。他的血浆氨水平升高,因此怀疑是高氨血症继发的脑病。然而,他的肝功能正常,未发现肝硬化或门体分流的证据。患者的病史显示,他自童年起就有过度食用豆类制品的倾向,氨基酸分析显示瓜氨酸和精氨酸水平升高。因此,我们诊断该患者为极其罕见的成人迟发型II型瓜氨酸血症,其由因牙齿问题停止摄入豆类食物(大豆和花生)引发。

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