Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation.
Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation.
复制标题
成人发病的 II 型瓜氨酸血症：肝移植前后的临床表现。
作者：
A. Kawata;Minami Suda;H. Tanabe
在一例25岁的成人起病的II型瓜氨酸血症患者中，肝移植消除了与该疾病相关的高氨血症和氨基酸异常。术后右侧扣带回T2加权磁共振成像(MRI)高信号区也消失，提示其为高氨血症所致早期可逆性损害。此外，升高的血清胰腺分泌性胰蛋白酶抑制物(PSTI)水平也恢复正常。由于有报道称II型瓜氨酸血症患者肝脏中PSTI mRNA和PSTI水平升高，因此检测血清PSTI水平有助于该病的诊断。
In a 25-year-old man with adult-onset type II citrullinemia, liver transplantation resulted in elimination of hyperammonemia and amino acid abnormalities associated with the disease. Postoperatively, a high intensity area in the right cingulate gyrus on a T2-weighted brain magnetic resonance imaging (MRI) also disappeared, suggesting that it reflected an early reversible lesion due to the hyperammonemia. Moreover, the serum level of pancreatic secretory trypsin inhibitor (PSTI), which had been elevated, was normalized. Since the levels of PSTI mRNA and PSTI have been reported to be increased in the livers of type II citrullinemia patients, measurement of serum PSTI levels could aid in the diagnosis of this disease.