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Difference in the Progression of a Liver Disease in a Pair of Siblings with Wilson's Disease
Author(s) -
MARUYAMA Toshihiro,
ISHINODA Yoshihiro,
IWAKI Yoshihiro,
HAYASHI Tohru Kitamura Katsuhiro,
NAKAMURA Haruki,
TSUDA Kazunori
Publication year - 1992
Publication title -
digestive endoscopy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.5
H-Index - 56
eISSN - 1443-1661
pISSN - 0915-5635
DOI - 10.1111/j.1443-1661.1992.tb00092.x
Subject(s) - wilson's disease , disease , cirrhosis , liver disease , medicine , degeneration (medical) , pathology
Wilson's hepatolenticular degeneration is a well defined disease, where copper metabolism is disturbed genetically in the liver, but its exact cause is not known. The development of the clinical symptoms varies in each individual and it is interesting to know the mechanism of the individual differences which occur in this well defined disease. We studied a pair of siblings with Wilson's disease in whom the condition of the liver disease was very much different. The 16‐year‐old man had the full blown liver cirrhosis characteristic of Wilson's disease, with large regenerating nodules and a deposition of copper granules in the hepatocytes. On the other hand, the liver of the 19‐year‐old sister, who was supposed to have the same Wilson's disease gene and who had been exposed to high concentrations of liver copper for a longer period, was fairly well preserved with a smooth liver surface. There is no study that reports in detail the differences in this liver disease in close relatives. According to the findings of our comparison of these 2 cases, we speculated that there are factors, other than the direct effect of Wilson's disease gene, which control the mode of accumulation and toxicity of copper in the liver, or factors that control the response to the accumulated copper in the liver.