[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 phase, 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.


CONCLUSIONS
The diagnostic signs for Wilson disease are autophagosomes in hepatocytes, cirrhosis accompanied with a few of inflammatory cells. A certain diagnosis of the disease depends on the finding of copper accumulation in hepatocytes.
Cai
Li-jing
LJ
Department of Children's Liver Diseases, Second Hospital of Nanjing Affiliated to the Medical College of Southeast University, Nanjing 210003, China. clj8082@yahoo.com
Li
Li
L
Cao
Xing-guo
XG
Yin
Guo-qing
GQ
D000293:Adolescent; D001707:Biopsy, Needle; D002648:Child; D003300:Copper / Q000378:metabolism; D005260:Female; D022781:Hepatocytes / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology / Q000648:ultrastructure*; D008297:Male
D003300:Copper