一名通过DNA分析确诊为成人型II型瓜氨酸血症并接受了活体亲属部分肝移植治疗的患者，从明显改变的意识状态中恢复。

Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by DNA analysis and treated with a living related partial liver transplantation.

作者信息

Takashima Yasuhiro, Koide Makoto, Fukunaga Hideyuki, Iwai Masahide, Miura Masaki, Yoneda Ryoji, Fukuda Tsuneo, Kobayashi Keiko, Saheki Takeyori

机构信息

Department of Internal Medicine, Nishiwaki City General Hospital, Hyogo.

出版信息

Intern Med. 2002 Jul;41(7):555-60. doi: 10.2169/internalmedicine.41.555.

DOI:10.2169/internalmedicine.41.555

PMID:12132524

Abstract

A 21-year-old woman was admitted with altered consciousness and hyperammonemia. She was diagnosed as having adult-onset type II citrullinemia (CTLN2) by DNA analysis. The patient had mutations of the SLC25A13 gene, which were compound heterozygotes of 851 del 4 and IVS11+1G>A. CTLN2 has a poor prognosis, in spite of various intensive medications, and we performed a living related partial liver transplantation (LRLT). Over a 2-year follow-up, the patient has been well. CTLN2 can be diagnosed by the DNA analysis and can be treated by LRLT.

摘要

一名21岁女性因意识改变和高氨血症入院。通过DNA分析，她被诊断为成人发作型II型瓜氨酸血症（CTLN2）。该患者存在SLC25A13基因突变，为851 del 4和IVS11 +1G>A的复合杂合子。尽管采用了各种强化药物治疗，CTLN2的预后仍较差，我们进行了活体亲属部分肝移植（LRLT）。经过2年的随访，患者情况良好。CTLN2可通过DNA分析进行诊断，并可通过LRLT进行治疗。