肝损害为主的肝豆状核变性临床及超微结构特点

Clinical characteristics and ultrastructural features of livers in children with Wilson disease manifested mainly as hepatic injuries

目的 探讨超微结构特点用作临床肝豆状核变性早期诊断指标的可行性。方法 对15例以肝 损害为主要临床表现的肝豆状核变性病例进行临床、组织学、超微结构观察与 X 线能谱分析。结果 在同 一标本中可以见肝细胞不同阶段的病变，分别为：早期的脂肪变性、线粒体病变、毛细胆管内胆汁淤积； 中期的细胞核损伤、细胞内浆网损伤、溶酶体和残余小体出现；晚期的细胞完全破坏、高电子密度的残余 体、胶原纤维增生；炎症细胞极少。X 线能谱分析表现为铜离子沉积。结论 细胞内大块高电子密度的残 余体、胶原纤维增生和炎症细胞极少是该病的超微结构和组织学特征，具有诊断意义；X 线能谱分析显示铜 离子含量增多具有确诊意义。

Objective To study the feasibility and possibility to diagnose Wilson disease with electronmicroscopical examination of liver biopsies. Methods Clinical analysis, histological observation and ultrastructural examination were performed on 15 children with Wilson disease. Results All 15 subjects had symptoms of hepatic disorders, such as jaundice. Morphological signs of hepatocyte injury in three phases, namely steatosis, mitochondrion changes and cholestasis in bile canaliculi of the early phase, nucleus injury, dilation of endoplasmic reticulum, increase of lysosomes and appearance of residual bodies of the second phase, and massive autophagy and cirrhosis of the late phase were shown. A few inflammatory cells in the liver specimens were observed. Accumulation of copper in lysosomes and autophagosomes was found by energy-dispersion X-ray, Conclusion The diagnostic signs for Wilson disease are autophagosomes in hepatocytes, and cirrhosis accompanied with a few inflammatory cells. A certain diagnosis of the disease depends on the finding of copper accumulation in hepatocytes.