Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation
复制标题
II型（成人发病）瓜氨酸血症：临床表现和肝移植的治疗效果
DOI：
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发表时间：
2001
影响因子：
11
通讯作者：
T. Saheki
中科院分区：
文献类型：
--
作者：
S. Ikeda;M. Yazaki;Y. Takei;T. Ikegami;Y. Hashikura;S. Kawasaki;Masahide Iwai;K. Kobayashi;T. Saheki
目的成人型瓜氨酸血症是一种遗传性氨基酸代谢紊乱，由肝脏特异性谷氨酰胺琥珀酸合成酶活性缺乏引起。大多数患有这种疾病的患者是在日本报告的，因此，这种疾病在日本以外尚未得到很好的认识。报告了II型瓜氨酸血症患者的详细临床表现，并提及了肝移植后的结局。方法对10例患者进行回顾性分析。其中7人接受了肝脏移植，移植物来自健康的家庭成员。结果：男6例，女4例，发病年龄17 ~ 51岁。9名患者的初始症状是突然发作的意识障碍，1名患者长期被认为患有慢性进行性精神病。入院时常见高浓度的血浆瓜氨酸和氨。虽然脑部CT或MRI缺乏任何一致的结果，但所有患者的EEG均异常，显示弥漫性慢波。此外，在5例患者中，慢性胰腺炎先于脑病发作。肝移植后，代谢异常，包括瓜氨酸和氨的异常血浆浓度，立即得到纠正，所有神经精神症状很快消失，只有一名患者的认知功能受损。这7名患者中有6人恢复了以前的社会生活，包括工作。结论成人型瓜氨酸血症的临床概念与肝性脑病的范围一致，肝移植是一种非常有前途的治疗方法。
OBJECTIVE Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. Most of the patients with this disease were reported in Japan and therefore, this disease has not been well recognised outside this country. The detailed clinical pictures of the patients with type II citrullinaemia are reported and their outcomes after liver transplantation referred to. METHODS Ten patients with this disease were evaluated. Seven of them underwent liver transplants using a graft obtained from a healthy family member. RESULTS There were six men and four women; the age of onset of encephalopathy ranged from 17 to 51 years. The initial symptom in nine patients was sudden onset disturbance of consciousness, and one patient had long been regarded as having a chronic progressive psychotic illness. High concentrations of plasma citrulline and ammonia were commonly seen on admission. Although brain CT or MRI lacked any consistent findings, the EEG was abnormal in all patients, showing diffuse slow waves. Additionally, in five patients chronic pancreatitis preceded the onset of encephalopathy. After liver transplantation the metabolic abnormalities, including abnormal plasma concentrations of citrulline and ammonia, were immediately corrected and all neuropsychic symptoms soon disappeared, except for impaired cognitive function in one patient. Six out of these seven patients returned to their previous social lives, including work. CONCLUSIONS The clinical concept of adult onset type II citrullinaemia coincides well with the range of hepatic encephalopathy, and liver transplantation is a very promising therapeutic approach.
导致人类瓜氨酸血症的精氨酸琥珀酸合成酶突变的异质性。
DOI：
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发表时间：
1990
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Kobayashi,K;Jackson,MJ;Tick,DB;O'Brien,WE;Beaudet,AL
通讯作者：
Beaudet,AL