====== Wilson Disease ======
====Main Features====
  * Hepatic disease due to excess accumulation of copper
  * Neurologic impairment from copper overload
  * Laboratory findings
    * Low serum ceruloplasmin levels <14 mg/dl
    * 24 hour urine copper excretion >40 μg
  * Treatment involves reducing copper concentrations with penicallamine or Tridentine and liver transplant 

====Eye Findings====
  * Kayser-Fleischer rings
    * copper deposition in Descemet's membrane 
    * present in about 50% in those with hepatic disease 
    * {{::kayser-fleischer_ring.jpg|}} from [[https://en.wikipedia.org/wiki/Kayser–Fleischer_ring#/media/File:Kayser-Fleischer_ring.jpg|https://en.wikipedia.org/wiki/Kayser–Fleischer_ring#/media/File:Kayser-Fleischer_ring.jpg]]
  * Sunflower Cataracts- radiating multicolored central opacities, less common 
  * {{::kf_ring_and_sunflower_cataract.jpg|}} from [[https://en.wikipedia.org/wiki/Kayser–Fleischer_ring#/media/File:KF_ring_and_Sunflower_cataract.jpg|https://en.wikipedia.org/wiki/Kayser–Fleischer_ring#/media/File:KF_ring_and_Sunflower_cataract.jpg]]
  * Possible mild retinal neurodegeneration
    * thinning of the retinal nerve fiber layer
    * delayed VEPs
  * Gaze palsy, especially up gaze
====Other Findings====
{{::wilson_disease_manifestations.jpg|}}
From [[https://www.nejm.org/doi/full/10.1056/NEJMra1903585|Current and Emerging Issues in Wilson's Disease,  Roberts EA, Schilsky ML, 2023 NEJM]]
====Etiology====
  * Autosomal recessive disorder of copper metabolism from mutations in the ATP7B gene leading to impaired copper secretion 
  * ATP7B encodes for a copper-transporting ATPase
  * 1:40,000 to 1:50,000 
====Reference====
  * {{::wilson_disease-_copper-mediated_cuproptosis_iron-related_ferroptosis_and_clinical_highlights_with_comprehensive_and_critical_analysis_update.pdf |Teschke R. et al. Wilson Disease: Copper-Mediated Cuproptosis, Iron-Related
Ferroptosis, and Clinical Highlights, with Comprehensive and Critical Analysis Update. Int.J.Mol.Sci.2024;25:4753}}
  * [[https://en.wikipedia.org/wiki/Kayser–Fleischer_ring|Wikipedia:Kayser-Fleisher ring]]
  * [[https://pubmed.ncbi.nlm.nih.gov/23166778/|Albrecht et al. Retinal neurodegeneration in Wilson's disease revealed by spectral domain optical coherence tomography. PLoS One 2012;7(11):e49825]]

{{tag>syndrome}}