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--- wilson_disease [2025/02/18 03:38] – created Scott Larson
+++ wilson_disease [2025/04/18 20:40] (current) – external edit 127.0.0.1
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 ====== 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}}

syndrome