LIVING-RELATED LIVER TRANSPLANTATION FOR TYPE II CITRULLINEMIA USING A GRAFT FROM HETEROZYGOTE DONOR1
LIVING-RELATED LIVER TRANSPLANTATION FOR TYPE II CITRULLINEMIA USING A GRAFT FROM HETEROZYGOTE DONOR1
复制标题
使用杂合子供体的移植物进行 II 型瓜氨酸血症的与生活相关的肝移植1
DOI：
10.1097/00007890-200101150-00027
复制
发表时间：
2001
期刊：
影响因子：
6.2
通讯作者：
Y. Morishita
中科院分区：
文献类型：
--
作者：
M. Kasahara;S. Ohwada;T. Takeichi;H. Kaneko;T. Tomomasa;A. Morikawa;Kimie Yonemura;K. Asonuma;Koichi Tanaka;K. Kobayashi;T. Saheki;I. Takeyoshi;Y. Morishita
背景。以肝脏特异性精氨酸琥珀酸合成酶缺乏为特征的 II 型瓜氨酸血症 (CTLN2) 是一种由 SLC25A13 基因突变引起的成人发病遗传性疾病，可导致暴发性高氨血症，往往预后不良。方法。一名16岁的日本男孩出现暴发性高氨血症和脑病，经过积极治疗后康复。通过血浆氨基酸模式和突变SLC25A13基因的检测，该患者被诊断为CTLN2。我们使用经基因证明的杂合子父亲的移植物进行了活体相关肝移植（LRLT）。结果。移植后一天内血清氨基酸浓度恢复正常，无需限制蛋白质和药物治疗。患者术后病程自然。手术后 6 个月，患者重返学校。结论。使用基因证明杂合子供体的移植物进行活体相关肝移植可能是 CTLN2 的一种允许的治疗方式。可能需要长期观察才能得出明确的结论。
Background. Type II citrullinemia (CTLN2) characterized by a liver-specific argininosuccinate synthetase deficiency is an adult onset genetical disorder caused by the mutation of SLC25A13 gene, which results in fulminant hyperammonemia often with poor prognosis. Methods. A 16-year-old Japanese boy presented fulminant hyperammonemia and encephalopathy and recovered after aggressive medical treatment. The patient was diagnosed as CTLN2 by plasma amino acid pattern and detection of the mutated SLC25A13 gene. We performed living-related liver transplantation (LRLT) using a graft from the genetically proven heterozygote father. Results. Serum amino acid concentration was normalized within a day after transplantation without protein restriction and medication. The patient’s postoperative course was natural. The patient is back in school 6 months after surgery. Conclusions. Living-related liver transplantation using a graft from genetically proven heterozygote donors might be a permissible treatment modality for CTLN2. Long-term observation may be necessary to make a definite conclusion possible.
影响因子：
9
作者：
TANAKA, K;UEMOTO, S;OZAWA, K
通讯作者：
OZAWA, K