A review and current perspective on Wilson disease

Journal of Clinical and Experimental Hepatology
Mallikarjun PatilHarshad Devarbhavi

Abstract

Wilson disease is a rare, inherited autosomal recessive disease of copper metabolism and may be more common where consanguinity is prevalent. Much has been known about the disease after it was first described by Kinnier Wilson as 'progressive lenticular degeneration in 1912. Over 500 mutations of the ATP7B gene has been identified with no clear genotype to phenotype correlation. Loss of ATP7B function leads various grades of reduced biliary excretion of copper and reduced incorporation of copper into ceruloplasmin; accumulation and toxicity of copper in the liver, brain and other tissues results in liver toxicity and other myriad manifestations of the disease. The clinical features may vary from asymptomatic state to chronic liver disease, acute liver failure, neuropsychiatric manifestations and hemolytic anemia. Diagnosis is based on the combination of clinical sign's, biochemical features, histologic findings and mutation analysis of ATP7B gene. Subtle geographical differences exist with a disproportionate proportion of children presenting with acute liver failure. A high index of suspicion is needed for an early diagnosis. Ratios of biochemical indices for early diagnosis need validation across geographical regions and may n...Continue Reading

Citations

Jun 10, 2020·European Journal of Ophthalmology·Cumali Degirmenci, Melis Palamar
Aug 14, 2015·World Journal of Gastroenterology : WJG·Kuerbanjiang AbuduxikuerJian-She Wang
Nov 9, 2016·MMW Fortschritte der Medizin·Florian Simon, Christoph Antoni
Sep 20, 2017·Seminars in Cardiothoracic and Vascular Anesthesia·Anthony BonaviaDmitri Bezinover
Oct 24, 2018·Cell Communication and Signaling : CCS·Julianna KardosKatalin Jemnitz
May 26, 2017·Journal of Pediatric Ophthalmology and Strabismus·Alice R Tang, David S Walton
Jul 7, 2017·International Review of Psychiatry·Gioia MuraMauro G Carta
May 16, 2018·Frontiers in Pediatrics·Sarah GuttmannHartmut H Schmidt
May 31, 2018·Neurology. Genetics·Ricarda UerlingsRalf Weiskirchen
Mar 5, 2016·Japanese Journal of Radiology·Tomonori KandaShigeru Furui
Nov 3, 2016·Biological & Pharmaceutical Bulletin·Yoko IdotaTakuo Ogihara
Apr 20, 2019·Frontiers in Pharmacology·Meng-Bei XuGuo-Qing Zheng
Jul 12, 2016·Paediatrics & Child Health·Dustin JacobsonSimon Ling
Nov 18, 2017·Therapeutic Advances in Gastroenterology·Mohmadshakil Kathawala, Gideon M Hirschfield
Jul 25, 2019·Pediatric Gastroenterology, Hepatology & Nutrition·Ju Young KimHye Ran Yang
Jan 27, 2021·Academic Radiology·Christopher J HealdPaul M Bunch
Sep 2, 2020·Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association·Jayant Patwa, S J S Flora
Mar 9, 2021·Clinical Liver Disease·Kevin PakDawn Torres
May 19, 2021·World Journal of Clinical Cases·Wei-Yuan FangJian-She Wang

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