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