Clinical and Pathological Aspects of Wilson's Disease in Cases of One and the Same Family

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Abstract
There were unexpectedly few detailed reports on the family in which more than 3 members were affected from Wilson''s disease. Consequently there are difficulties in the way of studying the genetical aspect of the disease. Four sisters in a family, 3 cases of typical Wilson''s disease and a case of asymptomatic one, were studied and the results were reported and discussed in this paper. According to the detailed analysis of clinical features, the fairly close similarity that 3 sisters bear in the age of onset, in the duration of the disease and in the time of beginning, severity or courses of not only chief symptoms but also of somewhat atypical symptoms, may be emphasized, though some inconsistencies are inevitable. The pathological studies revealed that not only the typical or basic findings of Wilson''s disease, but also relatively rare or somewhat atypical findings were commonly or coincidently found in sister cases. In regard to the copper metabolism, 3 sisters showed the same remarkable disturbances. The genetic fashion of the disease is mostly considered to be of an autosomal recessive pattern, but whether the factor is single or multiple was not yet concluded. Especially in Japan the theory of multiple factors has been weighty. However, considering the almost uniformal process of the disease in sister cases and no abnormalities in other family members, it may safely be asserted that the disease is inherited not in multiple factors, but in a single factor. As little attention has been paid to sibling cases, the clinicopathogical study of sister cases will contribute to the researches of the genetic aspect of the disease.