【摘 要】
：
目的 成人起病的Ⅱ型瓜氨酸血症(adult-onset type Ⅱ citrullinemia,CTLN2)和Citrin缺陷引起的新生儿肝内胆汁淤积症(neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD)是相同基因SLC25A 13突变引起的临床预后明显不同的疾病。本文的目的是提高临床医生对可治性疾病的早期诊断
【机 构】
：
中山大学干细胞与组织工程研究中心,广州,510080;广州 中山大学附属第一医院神经科,广州,51
【出 处】
：
中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
论文部分内容阅读
目的 成人起病的Ⅱ型瓜氨酸血症(adult-onset type Ⅱ citrullinemia,CTLN2)和Citrin缺陷引起的新生儿肝内胆汁淤积症(neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD)是相同基因SLC25A 13突变引起的临床预后明显不同的疾病。本文的目的是提高临床医生对可治性疾病的早期诊断、早期治疗和随访重要性的认识。方法 收集1个CTLN2家系的临床资料,对先证者和其女儿进行SLC25A13基因检测。结果 患者,27岁,因反复头晕、呕吐2年余,伴发作性神智模糊一年半来诊,肝脏B超、MR及肝活检均提示肝硬化改变。脑电图检测异常尖波。血氨基酸检测示瓜氨酸升高,SLC25A13基因检测示851 del4纯合突变,患者女儿系851 del4杂合突变。结论 对于成年人不明原因的头晕、呕吐,肝脏改变尚处于代偿期,特别是伴有神经精神症状的患者应考虑到CTLN2,SLC25A13基因检测可帮助诊断。早期诊断还有助于对患者家庭遗传咨询及饮食建议,及早发现问题,为可能进行的肝移植做准备。
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