introduction wilson’s disease is an autosomal recessive disorder, characterized by a disturbance in copper metabolism that leads to copper overload in different tissues of the body. because of various manifestations of wilson’s disease, physicians should have high index suspicion when patients manifest any type of liver disease, neurologic and psychiatric signs and symptoms. discussion wilson’s...

introduction coexistence of wilson’s disease and autoimmune hepatitis has been rarely reported in english literature. in this group of patients, there exist features of both diseases and laboratory and histopathological studies may be misleading. medical treatment for any of these entities, per se, may result in poor response. therefore, by considering the acute hepatitis resembling wilson’s di...

background wilson’s disease (wd) is a rare autosomal-recessive disorder characterized by a mutation in the atp7b gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper. case presentation we described the case of an indian male with a history of polydipsia and polyuria, related to hypercalciuria and consequent nephrocalcinosis. the symptoms began at the age ...

A R?eport of five cases, with Commentary WILSON'S disease is a heredo-familial disorder, the essential pathological elements of which consist in a cirrhotic state of the liver comb;ned with degenerative changes in the lenticular nuclei of the brain. The term "hepatolenticular degenera-tion" is therefore aptly precise, but affords little clue to the diversity of the clinical manifestations. A lo...

results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...

The inclusion of a rare neurological disease in an issue of this journal devoted to disorders of the liver would seem to warrant some explanation for although cirrhosis of the liver is an integral part of the syndrome of Wilson's disease, it accounts for an insignificant proportion of all patients suffering from hepatic cirrhosis. However, although quantitatively unimportant, its significance r...