Muhad Noorman P, Team Dentowesome, Final year
Reference: Davidsons Internal medicine , Internet
Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper overload in the body.
Common cause of liver cirrohsis in children.
Etiology:- A mutation in the ATP7B gene, which codes for copper transportation, causes Wilson’s disease
Nausea, weakness, vomiting, jaundice, bloating, spider angiomas, muscle cramps etc..
Memory, Speech impairments. Altered gait, personality changes, headache, insomnia etc…
Characteristic clinical signs:- SUNFLOWER CATARACT AND KAYSER-FLEISCHER RINGS. KF rings are golden brown ring like discoloration of eyes due to copper deposition.
Lab investigation:- Altered Liver enzymes
Elevated Serum copper level
Increased urinary copper excretion. Low Serum ceruloplasmin level. Liver biopsy will reveal copper deposition. Imaging like MRI/CT for lenticular imaging.
Treatment:-. Copper chelating agents like d-penicillamine, Trientine etc.. can be used. Oral Zinz tetrathiomolybdate can be given ti reduce dietary absorption of Copper.