Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| wilson_disease [2025/02/18 03:49] – Scott Larson | wilson_disease [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
|---|---|---|---|
| Line 3: | Line 3: | ||
| * Hepatic disease due to excess accumulation of copper | * Hepatic disease due to excess accumulation of copper | ||
| * Neurologic impairment from copper overload | * Neurologic impairment from copper overload | ||
| - | * Laboratory findings | + | * Laboratory findings |
| + | * Low serum ceruloplasmin | ||
| + | * 24 hour urine copper excretion | ||
| + | * Treatment involves reducing copper concentrations with penicallamine or Tridentine and liver transplant | ||
| ====Eye Findings==== | ====Eye Findings==== | ||
| * Kayser-Fleischer rings | * Kayser-Fleischer rings | ||
| * copper deposition in Descemet' | * copper deposition in Descemet' | ||
| - | * present in about 50% in those with hepatic disease | + | * present in about 50% in those with hepatic disease |
| + | * {{:: | ||
| * Sunflower Cataracts- radiating multicolored central opacities, less common | * Sunflower Cataracts- radiating multicolored central opacities, less common | ||
| + | * {{:: | ||
| + | * Possible mild retinal neurodegeneration | ||
| + | * thinning of the retinal nerve fiber layer | ||
| + | * delayed VEPs | ||
| + | * Gaze palsy, especially up gaze | ||
| ====Other Findings==== | ====Other Findings==== | ||
| {{:: | {{:: | ||
| Line 16: | Line 25: | ||
| * Autosomal recessive disorder of copper metabolism from mutations in the ATP7B gene leading to impaired copper secretion | * Autosomal recessive disorder of copper metabolism from mutations in the ATP7B gene leading to impaired copper secretion | ||
| * ATP7B encodes for a copper-transporting ATPase | * ATP7B encodes for a copper-transporting ATPase | ||
| + | * 1:40,000 to 1: | ||
| ====Reference==== | ====Reference==== | ||
| - | * [[link|Title]] | + | |
| + | Ferroptosis, | ||
| + | * [[https:// | ||
| + | | ||
| {{tag> | {{tag> | ||