Wilson’s disease — a hereditary syndrome
transmitted as an autosomal recessive
trait in which a decrease of ceruloplasmin
permits accumulation of copper in vari-
ous organs (brain, liver, kidney, and cor-
nea) associated with increased intestinal
absorption of copper. A pigmented ring
(Kayser–Fleischer ring) at the outer mar-
gin of the cornea is pathognomonic. This
syndrome is characterized by degenera-
tive changes in the brain, cirrhosis of the
liver, hemolysis, splenomegaly, tremor,
muscular rigidity, involuntary movements,
spastic contractures, psychic disturbances,
dysphagia, and progressive weakness and
emaciation
Достарыңызбен бөлісу: |