Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease

Hepatology

Volumn 52, Issue 6, 2010, Pages 1948-1956

  Nicastro, Emanuele ^a   Ranucci, Giusy ^a   Vajro, Pietro ^a   Vegnente, Angela ^a   Iorio, Raffaele ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; CERULOPLASMIN; COPPER; PENICILLAMINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; FEMALE; HUMAN; INFANT; LIVER DISEASE; MALE; MILD LIVER DISEASE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SCHOOL CHILD; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; URINARY EXCRETION; URINE LEVEL; WILSON DISEASE;

ADOLESCENT; CERULOPLASMIN; CHILD; CHILD, PRESCHOOL; COPPER; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; INFANT; LIVER; LIVER DISEASES; MALE; PENICILLAMINE; TRANSAMINASES; YOUNG ADULT;

EID: 78649603088     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.23910     Document Type: Article

References (33)

1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007; 369: 397-408.
2. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. HEPATOLOGY 2008; 47: 2089-2111.
3. Dhawan A, Taylor RM, Cheeseman P, De Silva P, Katsiyiannakis L, Mieli-Vergani G. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl 2005; 11: 441-448.
4. Iorio R, D'Ambrosi M, Marcellini M, Barbera C, Maggiore G, Zancan L, et al. Serum transaminases in children with Wilson's disease. J Pediatr Gastroenterol Nutr 2004; 39: 331-336.
5. Sanchez-Albisua I, Garde T, Hierro L, Camarena C, Frauca E, de la Vega A, et al. A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr 1999; 28: 186-190.
6. Machado A, Chien HF, Deguti MM, Cancado E, Azevedo RS, Scaff M, et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord 2006; 21: 2192-2196.
7. 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.
8. Svetel M, Pekmezovic T, Petrovic I, Tomic A, Kresojevic N, Jesic R, et al. Long-term outcome in Serbian patients with Wilson disease. Eur J Neurol 2009; 16: 852-857.
9. Muller T, Koppikar S, Taylor RM, Carragher F, Schlenck B, Heinz-Erian P, et al. Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children. J Hepatol 2007; 47: 270-276.
10. Iorio R, Porzio S, Mazzarella G, Fusco G, Vegnente A. Wilson disease: diagnostic dilemmas? J Pediatr Gastroenterol Nutr 2000; 31: 93.
11. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23: 139-142.
12. Dati F, Lammers M, Adam A, Sondag D, Stienen L. Reference values for 18 plasma proteins with the Behring nephelometer system [in German]. Lab Med 1989; 13: 87-90.
13. Martins da Costa C, Baldwin D, Portmann B, Lolin Y, Mowat AP, Mieli-Vergani G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. HEPATOLOGY 1992; 15: 609-615.
14. Kelson JR, Shamberger RJ. Methods compared for determining zinc in serum by flame atomic absorption spectroscopy. Clin Chem 1978; 24: 240-244.
15. Kingston HM, Jassie LB. Microwave energy for acid decomposition at elevated temperatures and pressures using biological and botanical samples. Anal Chem 1986; 58: 2534-2541.
16. Batts KP, Ludwig J. Chronic hepatitis. An update on terminology and reporting. Am J Surg Pathol 1995; 19: 1409-1417.
17. Lepori MB, Lovicu M, Dessi V, Zappu A, Incollu S, Zancan L, et al. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genet Test 2007; 11: 328-332.
18. Mak CM, Lam CW, Tam S. Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Clin Chem 2008; 54: 1356-1362.
19. Ferenci P, Steindl-Munda P, Vogel W, Jessner W, Gschwantler M, Stauber R, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease. Clin Gastroenterol Hepatol 2005; 3: 811-818.
20. Gibbs K, Walshe JM. A study of the ceruloplasmin concentrations found in 75 patients with Wilson's disease. Their kinships and various control groups. Q J Med 1979; 48: 447-463.
21. Gitlin JD. Aceruloplasminemia. Pediatr Res 1998; 44: 271-276.
22. Edwards CQ, Williams DM, Cartwright GE. Hereditary hypoceruloplasminemia. Clin Genet 1979; 15: 311-316.
23. Mandato C, Brive L, Miura Y, Davis JA, Di Cosmo N, Lucariello S, et al. Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res 2006; 59: 293-298.
24. Nicastro E, Loudianos G, Zancan L, D'Antiga L, Maggiore G, Marcellini M, et al. Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol 2009; 50: 555-561.
25. Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, et al. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin Genet 2005; 68: 524-532.
26. Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000; 46: 415-419.
27. Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212-218.
28. Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, et al. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr 2009; 48: 72-77.
29. Calvo PL, Pagliardini S, Baldi M, Pucci A, Sturiale L, Garozzo D, et al. Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. J Inherit Metab Dis; doi:10.1007/s10545-008-1004-9.
30. Meyer LA, Durley AP, Prohaska JR, Harris ZL. Copper transport and metabolism are normal in aceruloplasminemic mice. J Biol Chem 2001; 276: 36857-36861.
31. Klein D, Lichtmannegger J, Heinzmann U, Müller-Höcker J, Michaelsen S, Summer KH. Association of copper to metallothionein in hepatic lysosomes of Long-Evans Cinnamon (LEC) rats during the development of hepatitis. Eur J Clin Invest 1998; 28: 302-310.
32. Allen KJ, Buck NE, Cheah DM, Gazeas S, Bhathal P, Mercer JF. Chronological changes in tissue copper, zinc and iron in the toxic milk mouse and effects of copper loading. Biometals 2006; 19: 555-564.
33. Roberts EA, Robinson BH, Yang S. Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease. Mol Genet Metab 2008; 93: 54-65.