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晚发型遗传性酪氨酸血症Ⅰ型1例报道及文献复习 被引量：3

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摘要 目的结合文献分析遗传性酪氨酸血症Ⅰ型(HT1)的临床特点。方法通过患者相关实验室检查(肝功能、肝纤维化指标、血AFP、血尿氨基酸分析、肝脏影像学和病理)结果临床确诊的1例HT1患者,结合文献资料,分析HT1的临床特点、发病机制以及相关并发症等。结果 HT1是少见的常染色体隐性遗传氨基酸代谢疾病。结论临床遇到不明原因的肝脏损害,需要注意排除,血尿氨基酸分析是其主要敏感诊断指标之一。早期发现、早期诊断后饮食控制对病情有利。
作者 周志华 王训 韩咏竹 吴筠凡 喻绪恩 严彦
机构地区 安徽中医学院神经病学研究所附属医院
出处 《安徽医学》 2012年第10期1328-1331,共4页 Anhui Medical Journal
关键词 遗传性酪氨酸血症Ⅰ型 血尿氨基酸分析 棘红细胞 铜蓝蛋白
分类号 R725.8 [医药卫生—儿科]
  • 相关文献

参考文献17

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二级参考文献38

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共引文献40

同被引文献41

  • 1郭莉,焦保权,刘芳.一例不伴琥珀酰丙酮增高的酪氨酸血症Ⅰ型患儿的临床及遗传学分析[J].中华医学遗传学杂志,2019,36(5):472-476. 被引量：5
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引证文献3

二级引证文献9

安徽医学
2012年 第10期

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