17 Wilson’s
Wilson’s
- ATP7B in hepatic cells, pick up copper, transport to bile or into ceruloplasmin
- low ceruloplasmin: can’t carry copper in plasma = low plasma copper
- symptoms from increased free serum copper, not carried copper
- renal: fanconi anemia
Symptoms
- takes years for accumulation
- brown rim
- early diagnosis use slit lamp exam not liver function test
Diagnosis
Hemochromatosis
- ferritin in cell and plasma. Hemosiderin only inside cells
- HFE: High iron
Diagnosis
Treatment
