Objective Clinical features of a rare adult onset of citrullinemia type Ⅱ( CTLN2 ) were summarized in favor of its early diagnosis and treatment. Methods The clinical data of one case with CTLN2 were retrospectively analyzed, accompanied with follow-up and literature review. Results The patient was a 18 year old man,who experienced consciousness disturbance for 6 months,and his condition worsen for 1 week. He was admitted to hospital and a high level of plasma citruline was detected. Liver biopsy showed fatty liver and cirrhosis. DNA analysis of the SLC25A13 gene revealed a heterozygous mu-tation of c. 851-854del and an IVS16ins3kb mutation. The detection of his mother' s SLC25A13 gene also showed c. 851-854del heterozygosity mutation. He was successfully treated by liver transplantation. Conclusion Most patients suddenly suf-fer from altered consciousness associated with restlessness,drowsiness,and coma. Biochemical examination showed citrulline-mia or hyperammonia,and pathological features of liver core biopsy were similar to that of non-alcoholic fatty liver ( NAFLD) , while body mass index often lower than 20 kg/m2 . The diagnosis of CTLN2 could be confirmed by the detection of SLC25A13 gene mutation. Liver transplantation can be a promising therapeutic option for CTLN2 patients with liver cirrhosis.%目的 总结1例罕见的成人期发病瓜氨酸血症Ⅱ型(CTLN2)的临床资料,探讨CTLN2的临床特点及早期诊断、治疗.方法 回顾1例CTLN2患者的临床资料及诊治过程,并进行随访,复习相关文献.结果 患者血氨基酸检测示瓜氨酸显著升高;肝活检示脂肪肝及肝硬化;SLC25A13基因检测示c.851-854del杂合突变,IVS16ins3kb突变;其母亲SLC25A13基因检测示c.851-854del杂合突变.患者经肝移植治疗临床症状控制良好.结论 CTLN2患者常以发作性精神神经症状为首要表现,生化检查呈瓜氨酸血症、高氨血症,结合SLC25A13基因检测可确诊.肝脏病理学检查类似非酒精性脂肪肝,身体质量指数(BMI)常低于20 kg/m2,肝移植是目前对已有肝硬化的患者最有效的治疗方法.
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