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

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 appear- ance 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.