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Wilson's disease
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=== Other organ systems === [[File:Kayser-Fleischer ringArrow.jpg|thumb|A brown ring on the edge of the iris ([[Kayser–Fleischer ring]]) is common in Wilson's disease, especially when neurological symptoms are present.]] Medical conditions have been linked with copper accumulation in Wilson's disease: * '''Eyes:''' [[Kayser–Fleischer ring]]s (KF rings) may be visible in the [[cornea]] of the eyes, either directly or on [[slit lamp]] examination, as deposits of copper form a ring around the cornea. This is due to copper deposition in [[Descemet's membrane]]. These rings can be either dark brown, golden, or reddish-green, are 1 to 3mm wide, and appear at the corneal limbus. They do not occur in all people with Wilson's disease, and may be seen in people with chronic [[cholestasis]].<ref name="Pandey">{{cite journal|url=https://www.ncbi.nlm.nih.gov/books/NBK459187/|title=Kayser-Fleischer Ring|date=21 June 2022|last1=Pandey|first1=Nivedita|last2=John|first2=Savio|access-date=30 November 2022|publisher=StatPearls Publishing|location=Treasure Island, Florida|journal=StatPearls|pmid=29083643}}</ref><ref name="Roberts2008">{{cite journal|last1=Roberts|first1=Eve A.|last2=Schilsky|first2=Michael L. |title=Diagnosis and treatment of Wilson disease: An update|journal=Hepatology|volume=47|issue=6|year=2008|pages=2089–2111|doi=10.1002/hep.22261|doi-access=free|pmid=18506894}}</ref> Wilson's disease is also associated with sunflower [[cataract]]s exhibited by brown or green pigmentation of the anterior and posterior lens capsule.<ref>{{cite book |last=Yanoff |first=Myron|author2=Jay S. Duker |title=Ophthalmology|year=2008|publisher=Mosby|location=Edinburgh|isbn=978-0323057516 |pages=411|edition=3rd}}</ref> Neither causes significant visual loss.<ref name=Ala/> KF rings occur in approximately 66% of diagnosed cases (more often in those with neurological symptoms rather than with liver problems).<ref name=Merle2007/> * '''Kidneys:''' [[renal tubular acidosis#Type 2-Proximal RTA|renal tubular acidosis]] (Type 2), a disorder of [[bicarbonate]] handling by the [[proximal tubule]]s leads to [[nephrocalcinosis]] (calcium accumulation in the kidneys), a weakening of bones (due to calcium and phosphate loss), and occasionally [[aminoaciduria]] (loss of essential [[amino acid]]s needed for protein synthesis).<ref name=Ala/> * '''Heart:''' [[cardiomyopathy]] (weakness of the heart muscle) is a rare but recognized problem in Wilson's disease; it may lead to [[heart failure]] (fluid accumulation due to decreased pump function) and [[cardiac arrhythmia]]s (episodes of irregular and/or abnormally fast or slow heart beat).<ref name=Ala/> * '''Hormones:''' [[hypoparathyroidism]] (failure of the [[parathyroid gland]]s leading to low calcium levels), [[panhypopituitarism]] (leading to decreased production of hormones from the pituitary gland), [[infertility]], and [[recurrent miscarriage]].<ref name=Ala/><ref name="Roberts 2023">{{cite journal |last1=Roberts |first1=Eve A. |last2=Schilsky |first2=Michael L. |title=Current and Emerging Issues in Wilson's Disease |journal=New England Journal of Medicine |date=7 September 2023 |volume=389 |issue=10 |pages=922–938 |doi=10.1056/NEJMra1903585|pmid=37672695 |s2cid=261581755 }}</ref> *'''Musculoskeletal:''' Arthritis and thinning of the bones ([[osteopenia]] or [[osteoporosis]]).<ref name="Roberts2003" /> *'''Fingers:''' [[Blue nails]], or more formally Azure Lunula, is seen as a blue colouring fading proximally. <gallery widths="200" heights="200"> *'''Fingers:''' [[blue nails]] File:Sunflower cataract.jpg|Sunflower cataract and thick KF ring of a 40-year-old male with Wilson's disease and decompensated [[chronic liver disease]] File:KF ring 1.jpg|Diffuse illumination of cornea File:KF ring 2.jpg|Copper deposition on corneal Descemet's membrane </gallery>
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