Hepatocellular carcinoma in a case of adult-onset type II citrullinemia

被引：28
作者：
Hagiwara, N
Sekijima, Y
Takei, Y
Ikeda, S
Kawasaki, S
Kobayashi, K
Saheki, T
机构：
[1] Shinshu Univ, Sch Med, Dept Med 3, Matsumoto, Nagano 3908621, Japan
[2] Shinshu Univ, Sch Med, Dept Surg 1, Matsumoto, Nagano 3908621, Japan
[3] Kagoshima Univ, Fac Med, Dept Biochem, Kagoshima, Japan
来源：
INTERNAL MEDICINE | 2003年 / 42卷 / 10期
关键词：
citrulline; citrin; delivery; hepatocellular carcinoma; fatty change;
D O I：
10.2169/internalmedicine.42.978
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. DNA analysis of the citrin gene and enzymatic assay of argininosuccinate synthetase in the liver led to a diagnosis of adult-onset type II citrullinemia (CTLN2). She was also found to have hepatocellular carcinoma (HCC) and underwent palliative surgery consisting of partial liver section of the HCC. Delivery may be a trigger for the development of CTLN2, while certain pathologic conditions associated with citrin gene abnormality are likely to induce hepatocellular carcinoma in patients with this disorder.
引用
收藏
页码：978 / 982
页数：5
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