27.Issue 09 september 23 - INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES

Volume : 10, Issue : 09, September – 2023

Title:

27.ASSESSMENT OF WILSON’S DISEASE

Authors :

Naveena .B*, Tivya Lakshmi .S.T

Abstract :

Wilson’s disease (WD, or Wilson disease) is a clinical condition caused by mutations in the region of chromosome 13q14 that codes for the protein ATP7B. In Wilson’s disease, there is a faulty copper excretion mechanism, which causes copper to accumulate in the liver and spill into the bloodstream, where it begins to accumulate in other organs and tissues such as subcutaneous tissue, thalamus, mucous nuclei, cerebral cortex, kidney and cornea. Treatment is based on removing excess copper by chelating agents such as penicillamine, trientine (25), or tetrathiomolybdate (26,27) or by blocking intestinal absorption of copper with zinc salts (28), with the ultimate goal of normalizing free plasma copper.
Key words : Copper, Zinc, Penicillamine, Accumulation.

Cite This Article:

Please cite this article in press Naveena .B et al, Assessment Of Wilson’s Disease, Indo Am. J. P. Sci, 2023; 10 (09).

Number of Downloads : 10

References:

1) Wilson SA. K (1912) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain.;34:295-009.
2) Yang FM, Friedrichs WE, Cupples RL, Bonifacio MJ, Sanford JA, Horton WA, Bowman BH. Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing. Journal of Biological Chemistry. 1990 Jun 25;265(18):10780-5.
3) Rosencrantz R, Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. InSeminars in liver disease 2011 Aug (Vol. 31, No. 03, pp. 245-259). © Thieme Medical Publishers.
4) Hoogenraad TU. A paradigm shift in the treatment of Wilson’s disease: zinc therapy is now the treatment of choice. Brain and development. 2006 Apr 1;28(3):141-6.
5) Takkar B, Temkar S, Venkatesh P. Wilson disease: Copper in the eye. The National medical journal of India. 2018 Mar 1;31(2):122-.
6) Chaudhry HS, Anilkumar AC. Wilson disease.
7) Zou L, Song Y, Zhou X, Chu J, Tang X. Regional morphometric abnormalities and clinical relevance in Wilson’s disease. Movement disorders. 2019 Apr;34(4):545-54.
8) Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson’s disease cohort. Liver International. 2011 Jul;31(6):831-9.
9) Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Molecular genetics and metabolism. 2005 Sep 1;86(1-2):277-85.
10) Nicastro E, Loudianos G, Zancan L, D’Antiga L, Maggiore G, Marcellini M, Barbera C, Marazzi MG, Francavilla R, Pastore M, Vajro P. Genotype–phenotype correlation in Italian children with Wilson’s disease. Journal of Hepatology. 2009 Mar 1;50(3):555-61.
11) Ferenci P, Caca K, Loudianos G, Mieli‐Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F. Diagnosis and phenotypic classification of Wilson disease 1. Liver International. 2003 Jun;23(3):139-42.
12) Hevia FJ, Miranda M. The Special Problem of Wilson’s disease in Costa Rica-an unexpected high prevalence. Gastroenterol Int. 1989;1:228.
13) Saito T. Presenting symptoms and natural history of Wilson disease. European journal of pediatrics. 1987 May;146:261-5.
14) Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008 Jun 1;47(6):2089-111.
15) Svetel M, Potrebić A, Pekmezović T, Tomić A, Kresojević N, Ješić R, Dragašević N, Kostić VS. Neuropsychiatric aspects of treated Wilson’s disease. Parkinsonism & Related Disorders. 2009 Dec 1;15(10):772-5.
16) Svetel M, Kozić D, Stefanova E, Semnic R, Dragaševič N, Kostič VS. Dystonia in Wilson’s disease. Movement disorders: official journal of the Movement Disorder Society. 2001 Jul;16(4):719-23.
17) Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine. 2007 Mar 1;86(2):112-21.
18) del Rosario MA, Davis MM, Chong SK. Wobbly handwriting. The Lancet. 1998 Jan 31;351(9099):336.
19) Deguti MM, Tietge UJ, Barbosa ER, Cancado EL. The eye in Wilson‘s disease: sunflower cataract associated with Kayser-Fleischer ring. Journal of Hepatology. 2002 Nov 1;37(5):700.
20) European Association For The Study Of The Liver. EASL clinical practice guidelines: Wilson’s disease. Journal of Hepatology. 2012 Mar 1;56(3):671-85.
21) Shanmugiah A, Sinha S, Taly AB, Prashanth LK, Tomar MB, Arunodaya GR, Reddy JY, Khanna S. Psychiatric manifestations in Wilson’s disease: a cross-sectional analysis. The Journal of neuropsychiatry and clinical neurosciences. 2008 Jan;20(1):81-5.
22) Zimbrean PC, Schilsky ML. Psychiatric aspects of Wilson disease: a review. General hospital psychiatry. 2014 Jan 1;36(1):53-62.
23) Durand F. Wilson’s disease: an old disease keeps its old secrets. European journal of gastroenterology &hepatology. 2007 Feb 1;19(2):97-9.
24) Jiménez-Díaz M, Schosinsky-Nevermann K. Validación de la determinación de cobre en sueroempleando el ácidobicinconínico: relacióncobre/ceruloplasmina en pacientes con enfermedad de Wilson y pacientes sin la enfermedad. RevistaCostarricense de CienciasMédicas. 2002 Jun;23(1-2):33-43.
25) Scheinberg IH, Jaffe ME, Sternlieb I. The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson’s disease. New England Journal of Medicine. 1987 Jul 23;317(4):209-13.
26) Walshe JM, Scheinberg IH. Orphan Diseases/Orphan Drugs.
27) Brewer GJ, Dick RD, Johnson V, Wang Y, Yuzbasiyan-Gurkan V, Kluin K, Fink JK, Aisen A. Treatment of Wilson’s disease with ammonium tetrathiomolybdate: I. Initial therapy in 17 neurologically affected patients. Archives of Neurology. 1994 Jun 1;51(6):545-54.
28) Hoogenraad TU, Van den Hamer CJ. 3 years of continuous oral zinc therapy in 4 patients with Wilson’s disease. Acta Neurologica Scandinavica. 1983 Jun;67(6):356-64.
29) NIH Office of Rare Diseases Research [Internet] 2015. Available from: https://rarediseases.org/organizations/nihoffice-of-rare-disease-research/
30) Orphanet – The portal for rare diseases and orphan drugs [Internet] 2015. Available from: http://www.orpha.net/consor/cgi-bin/index.php.
31) Brewer GJ, Yuzbasiyan-Gurkan V, Lee DY, Appelman H. Treatment of Wilson’s disease with zinc. VI. Initial treatment studies. The Journal of laboratory and clinical medicine. 1989 Dec 1;114(6):633-8.
32) Public summary of positive opinion for orphan designation of ammonium tetrathiomolybdate for the treatment of Wilson’s disease. In: committee for orphan medicinal products, European Medicines Agency [Internet] London: 2008. pp. 1–4. Available from: URL:http://www.ema.europa.eu/docs/en_GB/document_library/Orphan_designation/2009/10/WC500005717.pdf.
33) Kasztelan-Szczerbinska B, Cichoz-Lach H. Wilson’s disease: an update on the diagnostic workup and management. Journal of Clinical Medicine. 2021 Oct 30;10(21):5097.
34) Baldari S, Di Rocco G, Toietta G. Current biomedical use of copper chelation therapy. International journal of molecular sciences. 2020 Feb 6;21(3):1069.
35) Litwin T, Dzieżyc K, Członkowska A. Wilson disease—treatment perspectives. Annals of translational medicine. 2019 Apr;7(Suppl 2).
36) Nagral A, Sarma MS, Matthai J, Kukkle PL, Devarbhavi H, Sinha S, Alam S, Bavdekar A, Dhiman RK, Eapen CE, Goyal V. Wilson’s disease: clinical practice guidelines of the Indian national association for the study of the liver, the Indian society of pediatric gastroenterology, hepatology and nutrition, and the movement disorders society of India. Journal of clinical and experimental hepatology. 2019 Jan 1;9(1):74-98.
37) Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Archives of neurology. 2006 Apr 1;63(4):521-7.
38) Yuan XZ, Yang RM, Wang XP. Management perspective of Wilson’s disease: early diagnosis and individualized therapy. Current Neuropharmacology. 2021 Apr 1;19(4):465-85.
39) Brewer GJ. Zinc therapy induction of intestinal metallothionein in Wilson’s disease. Official journal of the American College of Gastroenterology| ACG. 1999 Feb 1;94(2):301-2.
40) Calvo J, Jung H, Meloni G. Copper metallothioneins. Iubmb Life. 2017 Apr;69(4):236-45.
41) Appenzeller‐Herzog C, Mathes T, Heeres ML, Weiss KH, Houwen RH, Ewald H. Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta‐analysis of controlled studies. Liver International. 2019 Nov;39(11):2136-52.
42) Russell K, Gillanders LK, Orr DW, Plank LD. Dietary copper restriction in Wilson’s disease. European journal of clinical nutrition. 2018 Mar;72(3):326-31.
43) Einer C, Leitzinger C, Lichtmannegger J, Eberhagen C, Rieder T, Borchard S, Wimmer R, Denk G, Popper B, Neff F, Polishchuk EV. A high-calorie diet aggravates mitochondrial dysfunction and triggers severe liver damage in Wilson disease rats. Cellular and molecular gastroenterology and hepatology. 2019 Jan 1;7(3):571-96.