1,468
Views
103
CrossRef citations to date
0
Altmetric
Research Article

Diagnosis of Wilson's Disease: A Comprehensive Review

&
Pages 263-290 | Published online: 10 Oct 2008

REFERENCES

  • Wilson S AK. Progressive lenticular degeneration. A familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 295–509
  • Rumpel A. Uber das Wesen und die Bedeutung der Leberveranderungen und der pigmentierunen bie den damit verbunden Fallen von Pseudosclerose, zugleich ein Beitrag zur Lehre von der Pseudosclerose (Westphal-Strumpell). Dtsch Z Nervenheilk 1913; 49: 54–73
  • Vogt A. Kupfer und silber aufgespeichert in Auge, Leber, Milz und Nieren als Symptom der Pseudosklerose. Klin Mbl Augenheilk 1929; 83: 417–419
  • Haurowitz F. Ubereine anamoliedes kupferstoffwechsels. Hoppe-Seyler Z. Physiol Chemie 1930; 190: 72–74
  • Glazebrook A J. Wilson's disease. Edin Med J 1945; 52: 83–87
  • Gerlach W, Rohrschneider W. Besteht das Pigment des Kayser-Fleischerchen Hornhautringes aus Silber?. Klin Wschr 1934; 13: 48–49
  • Policard A, Bonner P, Bonamour G. Etude histospectrographique de l'anneasu corneen de Kayser-Fleischer. C R Soc Biol (Paris) 1936; 122: 1120–1122
  • Kayser B. Ueber einen Fall von angeborener grunlicher Verfarbung der Cornea. Klin Mbl Augenheilk 1902; 40: 22–25
  • Scheinberg I H, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration. Science 1952; 116: 484–485
  • Walshe J M. History of Wilson's disease: 1912 to 2000. Mov Disord 2006; 21: 142–147
  • Scheinberg I, Sternlieb I. Wilson's Disease. Major Probl Intern Med 1984; 23: 1–24
  • Sternlieb I. Perspectives on Wilson's disease. Hepatology 1990; 12: 1234–1239
  • Bachmann H, Lossner J, Gruss B, Ruchholtz U. The epidemiology of Wilson's disease in the German Democratic Republic and current problems from the viewpoint of population genetics. Psychiatr Neurol Med Psychol (Leipz) 1979; 31: 393–400
  • Saito T. An assessment of efficiency in potential screening for Wilson's disease. J Epidemiol Community Health 1981; 35: 274–280
  • Endo F, Taketa K, Nakamura K, Awata H, Tanoue A, Eda Y, Matsuda I. Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease. J Inherit Metab Dis 1994; 17: 616–620
  • Ohura T, Abukawa D, Shiraishi H, Yamaguchi A, Arashima S, Hiyamuta S, Tada K, Iinuma K. Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. J Inherit Metab Dis 1999; 22: 74–80
  • Yamaguchi Y, Aoki T, Arashima S, Ooura T, Takada G, Kitagawa T, Shigematsu Y, Shimada M, Kobayashi M, Itou M, Endo F. Mass screening for Wilson's disease: results and recommendations. Pediatr Int 1999; 41: 405–408
  • Olivarez L, Caggana M, Pass K A, Ferguson P, Brewer G J. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. Ann Hum Genet 2001; 65: 459–463
  • Hahn S H, Lee S Y, Jang Y J, Kim S N, Shin H C, Park S Y, Han H S, Yu E S, Yoo H W, Lee J S, Chung C S, Lee S Y, Lee D H. Pilot study of mass screening for Wilson's disease in Korea. Mol Genet Metab 2002; 76: 133–136
  • Dedoussis G V, Genschel J, Sialvera T E, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H. Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet 2005; 69: 268–274
  • Kroll C A, Ferber M J, Dawson B D, Jacobson R M, Mensink K A, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn S H. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab 2006; 89: 134–138
  • Garcia-Villarreal L, Daniels S, Shaw S H, Cotton D, Galvin M, Geskes J, Bauer P, Sierra-Hernandez A, Buckler A, Tugores A. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology 2000; 32: 1329–1336
  • Owada M, Suzuki K, Fukushi M, Yamauchi K, Kitagawa T. Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J Pediatr 2002; 140: 614–616
  • Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi A M, Deplano A, Moi P, Pirastu M, Cao A. Molecular characterization of Wilson disease in the Sardinian population—evidence of a founder effect. Hum Mutat 1999; 14: 294–303
  • Mak C M, Lam C W, Tam S, Lai C L, Chan L Y, Fan S T, Lau Y L, Lai S T, Yuen P, Hui J, Fu C C, Wong K S, Mak W L, Tze K, Tong S F, Lau A, Leung N, Hui A, Cheung K M, Ko C H, Chan Y K, Ma O, Chau T N, Chiu A, Chan Y W. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J Hum Genet 2008; 53: 55–63
  • Schilsky M L, Shneider B. Population screening for Wilson's disease. J Pediatr 2002; 140: 499–501
  • Cauza E, Maier-Dobersberger T, Polli C, Kaserer K, Kramer L, Ferenci P. Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin. J Hepatol 1997; 27: 358–362
  • Matsuda I. Screening for Wilson's disease. Lancet 1978; 1: 562
  • Wilson J MG, Jungner G. Principles and practice of screening for disease. Bol Oficina Sanit Panam 1968; 65: 281–393
  • Khoury M J, McCabe L L, McCabe E R. Population screening in the age of genomic medicine. N Engl J Med 2003; 348: 50–58
  • Arima M. Wilson's disease–evolutive panorama of diagnosis and treatment in the last forty years. No To Hattatsu 1995; 27: 96–103
  • Wilson D C, Phillips M J, Cox D W, Roberts E A. Severe hepatic Wilson's disease in preschool-aged children. J Pediatr 2000; 137: 719–722
  • Pooya A AA, Eslami N S, Haghighat M. Wilson disease in southern Iran. Turk J Gastroenterol 2005; 16: 71–74
  • Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005; 41: 668–670
  • Ko S, Lee T, Ng S, Lin J, Cheng Y. Unusual liver MR findings of Wilson's disease in an asymptomatic 2-year-old girl. Abdom Imaging 1998; 23: 56–59
  • Beyersdorff A, Findeisen A. Morbus Wilson: case report of a two-year-old child as first manifestation. Scand J Gastroenterol 2006; 41: 496–497
  • Fitzgerald M A, Gross J B, Goldstein N P, Wahner H W, McCall J T. Wilson's disease (hepatolenticular degeneration) of late adult onset: report of case. Mayo Clin Proc 1975; 50: 438–442
  • Czlonkowska A, Rodo M. Late onset of Wilson's disease. Report of a family. Arch Neurol 1981; 38: 729–730
  • Ross M E, Jacobson I M, Dienstag J L, Martin J B. Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. Ann Neurol 1985; 17: 411–413
  • Danks D M, Metz G, Sewell R, Prewett E J. Wilson's disease in adults with cirrhosis but no neurological abnormalities. BMJ 1990; 301: 331–332
  • Hefter H, Weiss P, Wesch H, Stremmel W, Feist D, Freund H J. Late diagnosis of Wilson's disease in a case without onset of symptoms. Acta Neurol Scand 1995; 91: 302–305
  • Gow P J, Smallwood R A, Angus P W, Smith A L, Wall A J, Sewell R B. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000; 46: 415–419
  • Pilloni L, Lecca S, Coni P, Demelia L, Pilleri G, Spiga E, Faa G, Ambu R. Wilson's disease with late onset. Dig Liver Dis 2000; 32: 180
  • Perri R E, Hahn S H, Ferber M J, Kamath P S. Wilson Disease—keeping the bar for diagnosis raised. Hepatology 2005; 42: 974
  • Dib N, Valsesia E, Malinge M C, Mauras Y, Misrahi M, Cales P. Late onset of Wilson's disease in a family with genetic haemochromatosis. Eur J Gastroenterol Hepatol 2006; 18: 43–47
  • Chappuis P, Callebert J, Quignon V, Woimant F, Laplanche J L. Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene. J Trace Elem Med Biol 2007; 21: 37–42
  • Sohtaoglu M, Ergin H, Ozekmekci S, Gokdemir S, Sonsuz A, Arici C. Patient with late-onset Wilson's disease: deterioration with penicillamine. Mov Disord 2007; 22: 290–291
  • Xuan A, Bookman I, Cox D W, Heathcote J. Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. J Hepatol 2007; 47: 428–433
  • Ferenci P, Czlonkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt H T, Stremmel W. Late-onset Wilson's disease. Gastroenterology 2007; 132: 1294–1298
  • Roberts E A, Schilsky M L. A practice guideline on Wilson disease. Hepatology 2003; 37: 1475–1492
  • Lin J J, Lin K L, Wang H S, Wong M C. Psychological presentations without hepatic involvement in Wilson disease. Pediatr Neurol 2006; 35: 284–286
  • Wichowicz H M, Cubala W J, Slawek J. Wilson's disease associated with delusional disorder. Psychiatry Clin Neurosci 2006; 60: 758–760
  • Robertson S, Carney P W. Depression and chorea. Diagnosis: Wilson's disease. J Clin Neurosci 2007; 14: 872, 917–918
  • 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. Liver Int 2003; 23: 139–142
  • Czlonkowska A, Tarnacka B, Moller J C, Leinweber B, Bandmann O, Woimant F, Oertel W H. Unified Wilson's Disease Rating Scale-a proposal for the neurological scoring of Wilson's disease patients. Neurol Neurochir Pol 2007; 41: 1–12
  • Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr 1987; 146: 261–265
  • Lehr H, Pauschinger M, Pittke E, Kurrle E, Heimpel H. Haemolytic anaemia as initial manifestation of Wilson's disease. Blut 1988; 56: 45–46
  • Grudeva-Popova J G, Spasova M I, Chepileva K G, Zaprianov Z H. Acute hemolytic anemia as an initial clinical manifestation of Wilson's disease. Folia Med (Plovdiv) 2000; 42: 42–46
  • Michel M, Lafaurie M, Noel V, Pico L, Bastie A, Godeau B, Schaeffer A. Hemolytic anemia disclosing Wilson's disease. Report of 2 cases. Rev Med Interne 2001; 22: 280–283
  • Leggio L, Addolorato G, Loudianos G, Abenavoli L, Lepori M B, Vecchio F M, Rapaccini G L, De Virgiliis S, Gasbarrini G. A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia. Dig Dis Sci 2006; 51: 34–38
  • Aydinli M, Harmanci O, Ersoy O, Iskit A T, Ozcebe O, Abbasoglu O, Bayraktar Y. Two unusual cases with Wilson's disease: hepatoma and fulminant hepatitis treated with plasma exchange. J Natl Med Assoc 2006; 98: 1989–1991
  • Xu R, Bu-Ghanim M, Fiel M I, Schiano T, Cohen E, Thung S N. Hepatocellular carcinoma associated with an atypical presentation of Wilson's disease. Semin Liver Dis 2007; 27: 122–127
  • Krysiak R, Okopien B. Whipple's triad as a clinical manifestation of hepatolenticular degeneration. Pol Arch Med Wewn 2007; 117: 53–55
  • Lau J Y, Lai C L, Wu P C, Pan H Y, Lin H J, Todd D. Wilson's disease: 35 year's experience. Q J Med 1990; 75: 597–605
  • Erkan T, Aktuglu C, Gulcan E M, Kutlu T, Cullu F, Apak H, Tumay G T. Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia. J Adolesc Health 2002; 31: 378–380
  • Schagen van Leeuwen J H, Christiaens G C, Hoogenraad T U. Recurrent abortion and the diagnosis of Wilson disease. Obstet Gynecol 1991; 78: 547–549
  • Mustafa M S, Shamina A H. Five successful deliveries following 9 consecutive spontaneous abortions in a patient with Wilson disease. Aust N Z J Obstet Gynaecol 1998; 38: 312–314
  • Rosenoer V M, Michell R C. Skeletal changes in Wilson's disease (hepato-lenticular degeneration). Br J Radiol 1959; 32: 805–809
  • Mindelzun R, Elkin M, Scheinberg I H, Sternlieb I. Skeletal changes in Wilson's disease. A radiological study. Radiology 1970; 94: 127–132
  • Pan H Y, Huang C Y, Lai C L. Wilson's disease in a patient presenting with skeletal abnormalities. Orthopedics 1985; 8: 742–744
  • Balint G, Szebenyi B. Hereditary disorders mimicking and/or causing premature osteoarthritis. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 219–250
  • Papapetropoulos S, Singer C. Painless legs moving toes in a patient with Wilson's disease. Mov Disord 2006; 21: 579–580
  • Kumar T S, Moses P D. Isolated tongue involvement—an unusual presentation of Wilson's disease. J Postgrad Med 2005; 51: 337
  • Polychronopoulos P, Argyriou A A, Papapetropoulos S, Gourzis P, Rigas G, Chroni E. Wilson's disease and benign epilepsy of childhood with centrotemporal (rolandic) spikes. Epilepsy Behav 2006; 8: 438–441
  • Pendlebury S T, Rothwell P M, Dalton A, Burton E A. Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. Neurology 2004; 63: 1982–1983
  • Kumar S. Wilson's disease presenting as status epilepticus. Indian Pediatr 2005; 42: 492–493
  • Shukla R, Desai P, Vinod P. Wilson's disease presenting as status epilepticus. J Assoc Physicians India 2006; 54: 887–889
  • Gronlund J, Nanto-Salonen K, Venetoklis J, Holmberg R L, Heinonen A, Stahlberg M R. Poor cognitive development and abdominal pain: Wilson's disease. Scand J Gastroenterol 2006; 41: 361–364
  • Hoppe B, Neuhaus T, Superti-Furga A, Forster I, Leumann E. Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease. Nephron 1993; 65: 460–462
  • Laufer J, Passwell J, Lotan D, Boichis H. Screening for Wilson's disease in the investigation of hematuria. Isr J Med Sci 1992; 28: 367–369
  • Sarles J, Durand J M, Scheiner C, Picon G. Wilson disease, IgA glomerulonephritis and vascular purpura: an incidental association?. Arch Fr Pediatr 1993; 50: 501–504
  • Gunduz Z, Dusunsel R, Anarat A. Wilson cirrhosis associated with membranoproliferative glomerulonephritis. Nephron 1996; 74: 497–498
  • Kalra V, Khurana D, Mittal R. Wilson's disease–early onset and lessons from a pediatric cohort in India. Indian Pediatr 2000; 37: 595–601
  • Kalra V, Mahajan S, Kesarwani P K. Rare presentation of Wilson's disease: a case report. Int Urol Nephrol 2004; 36: 289–291
  • Chu C C, Huang C C, Chu N S. Recurrent hypokalemic muscle weakness as an initial manifestation of Wilson's disease. Nephron 1996; 73: 477–479
  • Chakraborty P P, Mandal S K, Bandyopadhyay D, Bandyopadhyay R, Chowdhury S R. Recurrent limb weakness as initial presentation of Wilson's disease. Indian J Gastroenterol 2007; 26: 36–38
  • Narayanan P, Chetan G, Mahadevan S. Wilson's disease presenting as respiratory failure. Indian J Pediatr 2006; 73: 99–100
  • Atanassova P A, Panchovska M S, Tzvetanov P, Chalakova N T, Masaldzhieva R I, Dimitrov B D. Hepatolenticular degeneration combined with primary antiphospholipid syndrome: a case report. Eur Neurol 2006; 55: 42–43
  • Azevedo E M, Scaff M, Barbosa E R, Neto A E, Canelas H M. Heart involvement in hepatolenticular degeneration. Acta Neurol Scand 1978; 58: 296–303
  • Kuan P. Cardiac Wilson's disease. Chest 1987; 91: 579–583
  • Firneisz G, Szonyi L, Ferenci P, Gorog D, Nemes B, Szalay F. Wilson disease in two consecutive generations: an exceptional family. Am J Gastroenterol 2001; 96: 2269–2271
  • Firneisz G, Szonyi L, Ferenci P, Willheim C, Horvath A, Folhoffer A, Tulassay Z, Szalay F. The other mutation is found: follow-up of an exceptional family with Wilson disease. Am J Gastroenterol 2004; 99: 2504–2505
  • Bull P C, Thomas G R, Rommens J M, Forbes J R, Cox D W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993; 5: 327–337
  • Petrukhin K, Fischer S G, Pirastu M, Tanzi R E, Chernov I, Devoto M, Brzustowicz L M, Cayanis E, Vitale E, Russo J J, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993; 5: 338–343
  • Tanzi R E, Petrukhin K, Chernov I, Pellequer J L, Wasco W, Ross B, Romano D M, Parano E, Pavone L, Brzustowicz L M, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344–350
  • Petrukhin K, Lutsenko S, Chernov I, Ross B M, Kaplan J H, Gilliam T C. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994; 3: 1647–1656
  • La Fontaine S, Mercer J F. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys 2007; 463: 149–167
  • Forbes J R, Cox D W. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000; 9: 1927–1935
  • de Bie P, van de Sluis B, Burstein E, van de Berghe P V, Muller P, Berger R, Gitlin J D, Wijmenga C, Klomp L W. Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Gastroenterology 2007; 133: 1316–1326
  • Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006; 120: 151–159
  • Thomas G R, Forbes J R, Roberts E A, Walshe J M, Cox D W. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995; 9: 210–217
  • Firneisz G, Lakatos P L, Szalay F, Polli C, Glant T T, Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet 2002; 108: 23–28
  • Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A 2004; 131A: 168–173
  • Cox D W, Prat L, Walshe J M, Heathcote J, Gaffney D. Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Hum Mutat 2005; 26: 280
  • Gromadzka G, Schmidt H H, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Czlonkowska A. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 2006; 21: 245–248
  • Folhoffer A, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa J P, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos P L, Szalay F. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease. Eur J Gastroenterol Hepatol 2007; 19: 105–111
  • Thomas G R, Roberts E A, Walshe J M, Cox D W. Haplotypes and mutations in Wilson disease. Am J Hum Genet 1995; 56: 1315–1319
  • Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat 2000; 15: 454–462
  • Wu Z Y, Wang N, Lin M T, Fang L, Murong S X, Yu L. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. Arch Neurol 2001; 58: 971–976
  • Yoo H W. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet Med 2002; 4: 43S–48S
  • Liu X Q, Zhang Y F, Liu T T, Hsiao K J, Zhang J M, Gu X F, Bao K R, Yu L H, Wang M X. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 2004; 10: 590–593
  • Wan L, Tsai C H, Tsai Y, Hsu C M, Lee C C, Tsai F J. Mutation analysis of Taiwanese Wilson disease patients. Biochem Biophys Res Commun 2006; 345: 734–738
  • Kenney S M, Cox D W. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum Mutat 2007; 28: 1171–1177
  • Swinkels D W, Janssen M C, Bergmans J, Marx J J. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem 2006; 52: 950–968
  • Wang L, Freedman S D. Laboratory tests for the diagnosis of cystic fibrosis. Am J Clin Pathol 2002; 117(Suppl 1)S109–115
  • Lovicu M, Dessi V, Zappu A, De Virgiliis S, Cao A, Loudianos G. Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population. Clin Chem 2003; 49: 496–498
  • Weirich G, Cabras A D, Serra S, Coni P P, Nurchi A M, Faa G, Hofler H. Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography. Prev Med 2002; 35: 278–284
  • Huster D, Weizenegger M, Kress S, Mossner J, Caca K. Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology. Clin Chem Lab Med 2004; 42: 507–510
  • Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das S K, Gangopadhyay P K, Ray K. Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clin Chem 2007; 53: 1601–1608
  • Polakova H, Katrincsakova B, Minarik G, Ferakova E, Ficek A, Baldovic M, Kadasi L. Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test. Gen Physiol Biophys 2007; 26: 91–96
  • Gu Y H, Kodama H, Du S L, Gu Q J, Sun H J, Ushijima H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin Genet 2003; 64: 479–484
  • Park S, Park J Y, Kim G H, Choi J H, Kim K M, Kim J B, Yoo H W. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat 2007; 28: 1108–1113
  • Shimizu N, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Pediatr Int 1999; 41: 409–413
  • Lam C W, Mak C M. Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions. Clin Chem 2006; 52: 517–520
  • Loudianos G, Dessi V, Lovicu M, Angius A, Kanavakis E, Tzetis M, Kattamis C, Manolaki N, Vassiliki G, Karpathios T, Cao A, Pirastu M. Haplotype and mutation analysis in Greek patients with Wilson disease. Eur J Hum Genet 1998; 6: 487–491
  • Tsai C H, Tsai F J, Wu J Y, Chang J G, Lee C C, Lin S P, Yang C F, Jong Y J, Lo M C. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat 1998; 12: 370–376
  • Loudianos G, Dessi V, Lovicu M, Angius A, Altuntas B, Giacchino R, Marazzi M, Marcellini M, Sartorelli M R, Sturniolo G C, Kocak N, Yuce A, Akar N, Pirastu M, Cao A. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet 1999; 36: 833–836
  • Oder W, Grimm G, Kollegger H, Ferenci P, Schneider B, Deecke L. Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. J Neurol 1991; 238: 281–287
  • Steindl P, Ferenci P, Dienes H P. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212–218
  • Yuce A, Kocak N, Demir H, Gurakan F, Ozen H, Saltik I N, Ozcay F. Evaluation of diagnostic parameters of Wilson's disease in childhood. Indian J Gastroenterol 2003; 22: 4–6
  • Gheorghe L, Popescu I, Iacob S, Gheorghe C, Vaidan R, Constantinescu A, Iacob R, Becheanu G, Angelescu C, Diculescu M. Wilson's Disease: a challenge of diagnosis. The 5-year experience of a tertiary centre. Rom J Gastroenterol 2004; 13: 179–185
  • Karim M B, Rahman M M, Islam M S. Wilson's disease with hepatic presentation in childhood. Mymensingh Med J 2007; 16: 29–32
  • Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 2007; 56: 115–120
  • Taly A B, Meenakshi-Sundaram S, Sinha S, Swamy H S, Arunodaya G R. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007; 86: 112–121
  • Fleming C R, Dickson E R, Hollenhorst R W, Goldstein N P, McCall J T, Baggenstoss A H. Pigmented corneal rings in a patient with primary biliary cirrhosis. Gastroenterology 1975; 69: 220–225
  • Fleming C R, Dickson E R, Wahner H W, Hollenhorst R W, McCall J T. Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 1977; 86: 285–288
  • Rimola A, Bruguera M, Rodes J. Kayser-Fleischer-like ring in a cryptogenic cirrhosis. Arch Intern Med 1978; 138: 1857–1858
  • Frommer D, Morris J, Sherlock S, Abrams J, Newman S. Kayser-Fleischer-like rings in patients without Wilson's disease. Gastroenterology 1977; 72: 1331–1335
  • Hellman N E, Gitlin J D. Ceruloplasmin metabolism and function. Annu Rev Nutr 2002; 22: 439–458
  • Matsuda I, Pearson T, Holtzman N A. Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menkes' kinky hair syndrome, Wilson's disease, and umbilical cord blood. Pediatr Res 1974; 8: 821–824
  • Gitlin D, Janeway C A. Turnover of the copper and protein moieties of ceruloplasmin. Nature 1960; 185: 693
  • Sternlieb I, Morell A G, Tucker W D, Greene M W, Scheinberg I H. The incorporation of copper into ceruloplasmin in vivo: studies with copper and copper. J Clin Invest 1961; 40: 1834–1840
  • Sternlieb I, Van den Hamer C J, Morell A G, Alpert S, Gregoriadis G, Scheinberg I H. Lysosomal defect of hepatic copper excretion in Wilson's disease (hepatolenticular degeneration). Gastroenterology 1973; 64: 99–105
  • Pojerova A, Tovarek J. Ceruloplasmin in early childhood. Acta Paediatr 1960; 49: 113–120
  • Schenker I F, Shemesh A, Polishuk W Z. Serum ceruloplasmin levels in normal pregnancy and in newborn infants. Harefuah 1971; 81: 362–363
  • Shokeir M H. Investigations on the nature of ceruloplasmin deficiency in the newborn. Clin Genet 1971; 2: 223–227
  • Mora F, Quesada T, Pena J, Osorio C. Immunological and oxidase measurement of ceruloplasmin in pregnant women and newborn (author's transl). Rev Esp Fisiol 1976; 32: 103–106
  • Fryer A A, Jones P, Strange R, Hume R, Bell J E. Plasma protein levels in normal human fetuses: 13 to 41 weeks' gestation. Br J Obstet Gynaecol 1993; 100: 850–855
  • Galinier A, Periquet B, Lambert W, Garcia J, Assouline C, Rolland M, Thouvenot J P. Reference range for micronutrients and nutritional marker proteins in cord blood of neonates appropriated for gestational ages. Early Hum Dev 2005; 81: 583–593
  • Mak C M, Tam S, Fan S T, Liu C L, Lam C W. Wilson's disease: a patient undiagnosed for 18 years. Hong Kong Med J 2006; 12: 154–158
  • Cox D W. Factors influencing serum ceruloplasmin levels in normal individuals. J Lab Clin Med 1966; 68: 893–904
  • Kumar S, Thapa B, Kaur G, Prasad R. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Mol Cell Biochem 2007; 294: 1–10
  • Whicher J T, Ritchie R F, Johnson A M, Baudner S, Bienvenu J, Blirup-Jensen S, Carlstrom A, Dati F, Ward A M, Svendsen P J. New international reference preparation for proteins in human serum (RPPHS). Clin Chem 1994; 40: 934–938
  • Johnson A M, Whicher J T, Ledue T B, Carlstrom A, Itoh Y, Petersen P H. Effect of a new international reference preparation for proteins in human serum (certified reference material 470) on results of the College of American Pathologists Surveys for plasma proteins. Arch Pathol Lab Med 2000; 124: 1496–1501
  • Beetham R, White P, Riches P, Bullock D, MacKenzie F. Use of CRM 470/RPPHS has not achieved true consensus for ceruloplasmin measurement. Clin Chem 2002; 48: 2293–2294
  • George S, Matthai S A, Sosamma M M, Sukumaran T U. Menkes' kinky hair syndrome. Indian J Pediatr 2005; 72: 891–892
  • Subotzky E F, Heese H D, Sive A A, Dempster W S, Sacks R, Malan H. Plasma zinc, copper, selenium, ferritin and whole blood manganese concentrations in children with kwashiorkor in the acute stage and during refeeding. Ann Trop Paediatr 1992; 12: 13–22
  • Stec J, Podracka L, Pavkovcekova O, Kollar J. Zinc and copper metabolism in nephrotic syndrome. Nephron 1990; 56: 186–187
  • Kamireddy R, Kavuri S, Devi S, Vemula H, Chandana D, Harinarayanan S, James R, Rao A. Oxidative stress in pediatric nephrotic syndrome. Clin Chim Acta 2002; 325: 147–150
  • O'Donnell D, Myers A M. Intestinal lymphangiectasia with protein losing enteropathy, toxic copper accumulation and hypoparathyroidism. Aust N Z J Med 1990; 20: 167–169
  • Tan J C, Burns D L, Jones H R. Severe ataxia, myelopathy, and peripheral neuropathy due to acquired copper deficiency in a patient with history of gastrectomy. JPEN J Parenter Enteral Nutr 2006; 30: 446–450
  • Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology 2003; 23: 345–350
  • Harris Z L. Not all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemia. J Investig Med 2002; 50: S236–S238
  • Sternlier I, Morell A G, Bauer C D, Combes B, De Bobes-Sternberg S, Schein-Berg I H. Detection of the heterozygous carrier of the Wilson's disease gene. J Clin Invest 1961; 40: 707–715
  • Yang X, Tong D J, Liang J, Zhang Y H, Lei J H, He X E, He G. Ceruloplasmin level of patients with liver disease in China. Zhonghua Nei Ke Za Zhi 2005; 44: 13–15
  • Schilsky M L, Sternlieb I. Overcoming obstacles to the diagnosis of Wilson's disease. Gastroenterology 1997; 113: 350–353
  • Hiyamuta S, Shimizu K, Aoki T. Early diagnosis of Wilson disease. Lancet 1993; 342: 56–57
  • Walshe J M. Wilson's disease: the importance of measuring serum caeruloplasmin non-immunologically. Ann Clin Biochem 2003; 40: 115–121
  • Hohbadel D C, McNeely M D, Sunderman F W. Automated bichromatic analysis of serum ceruloplasmin. Ann Clin Lab Sci 1975; 5: 65–70
  • Winkles J, Jones A F, Winyard P, Blake D R, Lunec J. An automated method for the kinetic measurement of ferroxidase activity. Ann Clin Biochem 1988; 25: 250–254
  • Erel O. Automated measurement of serum ferroxidase activity. Clin Chem 1998; 44: 2313–2319
  • Twomey P J, Viljoen A, House I M, Reynolds T M, Wierzbicki A S. Adjusting copper concentrations for caeruloplasmin levels in routine clinical practice. J Clin Pathol 2006; 59: 867–869
  • Bohrer D, Do Nascimento P C, Ramirez A G, Mendonca J K, De Carvalho L M, Pomblum S C. Comparison of ultrafiltration and solid phase extraction for the separation of free and protein-bound serum copper for the Wilson's disease diagnosis. Clin Chim Acta 2004; 345: 113–121
  • Gaffney D, Fell G S, O'Reilly D SJ. ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring. J Clin Pathol 2000; 53: 807–812
  • Twomey P J, Viljoen A, House I M, Reynolds T M, Wierzbicki A S. Relationship between serum copper, ceruloplasmin, and non-ceruloplasmin-bound copper in routine clinical practice. Clin Chem 2005; 51: 1558–1559
  • Ricos C, Alvarez V, Cava F, Garcia-Lario J V, Hernandez A, Jimenez C V, Minchinela J, Perich C, Simon M. Current databases on biological variation: pros, cons and progress. Scand J Clin Lab Invest 1999; 59: 491–500
  • Ricos C, Cava F, Garcia-Lario J V, Hernandez A, Iglesias N, Jimenez C V, Minchinela J, Perich C, Simon M, Domenech M V, Alvarez V. The reference change value: a proposal to interpret laboratory reports in serial testing based on biological variation. Scand J Clin Lab Invest 2004; 64: 175–184
  • Ricos C, Iglesias N, Garcia-Lario J V, Simon M, Cava F, Hernandez A, Perich C, Minchinela J, Alvarez V, Domenech M V, Jimenez C V, Biosca C, Tena R. Within-subject biological variation in disease: collated data and clinical consequences. Ann Clin Biochem 2007; 44: 343–352
  • Martins da Costa C, Baldwin D, Portmann B, Lolin Y, Mowat A P, Mieli-Vergani G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992; 15: 609–615
  • Muller T, Koppikar S, Taylor R M, Carragher F, Schlenck B, Heinz-Erian P, Kronenberg F, Ferenci P, Tanner S, Siebert U, Staudinger R, Mieli-Vergani G, Dhawan A. Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children. J Hepatol 2007; 47: 270–276
  • Ferenci P, Steindl-Munda P, Vogel W, Jessner W, Gschwantler M, Stauber R, Datz C, Hackl F, Wrba F, Bauer P, Lorenz O. Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease. Clin Gastroenterol Hepatol 2005; 3: 811–818
  • McDonald J A, Snitch P, Painter D, Hensley W, Gallagher N D, McCaughan G W. Striking variability of hepatic copper levels in fulminant hepatic failure. J Gastroenterol Hepatol 1992; 7: 396–398
  • Caprai S, Loudianos G, Massei F, Gori L, Lovicu M, Maggiore G. Direct diagnosis of Wilson disease by molecular genetics. J Pediatr 2006; 148: 138–140
  • Prashanth L K, Taly A B, Sinha S, Arunodaya G R, Swamy H S. Wilson's disease: diagnostic errors and clinical implications. J Neurol Neurosurg Psychiatry 2004; 75: 907–909
  • Walshe J M. Penicillamine: the treatment of first choice for patients with Wilson's disease. Mov Disord 1999; 14: 545–550
  • Brewer G J. Penicillamine should not be used as initial therapy in Wilson's disease. Mov Disord 1999; 14: 551–554
  • LeWitt P A. Penicillamine as a controversial treatment for Wilson's disease. Mov Disord 1999; 14: 555–556
  • Brewer G J, Dick R D, Johnson V D, Fink J K, Kluin K J, Daniels S. Treatment of Wilson's disease with zinc XVI: Treatment during the pediatric years. J Lab Clin Med 2001; 137: 191–198
  • Klevay L M. Using zinc to remove copper from pediatric patients with Wilson's disease. J Lab Clin Med 2001; 138: 214
  • Marcellini M, Di Ciommo V, Callea F, Devito R, Comparcola D, Sartorelli M R, Carelli F, Nobili V. Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: a single-hospital, 10-year follow-up study. J Lab Clin Med 2005; 145: 139–143
  • Brewer G J, Askari F K. Wilson's disease: clinical management and therapy. J Hepatol 2005; 42(Suppl 1)S13–S21
  • Hoogenraad T U. Paradigm shift in treatment of Wilson's disease: zinc therapy now treatment of choice. Brain Dev 2006; 28: 141–146
  • Macintyre G, Gutfreund K S, Martin W R, Camicioli R, Cox D W. Value of an enzymatic assay for the determination of serum ceruloplasmin. J Lab Clin Med 2004; 144: 294–301
  • Pinter R, Hogge W A, McPherson E. Infant with severe penicillamine embryopathy born to a woman with Wilson disease. Am J Med Genet A 2004; 128: 294–298
  • Ha-Hao D, Merle U, Hofmann C, Wesch H, Doll J, Auburger G, Tuma S, Strauss M, Stremmel W. Chances and shortcomings of adenovirus-mediated ATP7B gene transfer in Wilson disease: proof of principle demonstrated in a pilot study with LEC rats. Z Gastroenterol 2002; 40: 209–216
  • Meng Y, Miyoshi I, Hirabayashi M, Su M, Mototani Y, Okamura T, Terada K, Ueda M, Enomoto K, Sugiyama T, Kasai N. Restoration of copper metabolism and rescue of hepatic abnormalities in LEC rats, an animal model of Wilson disease, by expression of human ATP7B gene. Biochim Biophys Acta 2004; 1690: 208–219
  • Merle U, Encke J, Tuma S, Volkmann M, Naldini L, Stremmel W. Lentiviral gene transfer ameliorates disease progression in Long-Evans cinnamon rats: an animal model for Wilson disease. Scand J Gastroenterol 2006; 41: 974–982
  • Merle U, Stremmel W, Encke J. Perspectives for gene therapy of Wilson disease. Curr Gene Ther 2007; 7: 217–220

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.