Wilson's disease: A patient undiagnosed for 18 years

Hong Kong Medical Journal

Volumn 12, Issue 2, 2006, Pages 154-158

  Mak, C M ^a,b   Tam, S ^a,b   Fan, S T ^c   Liu, C L ^c   Lam, C W ^d  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b Division of Clinical Biochemistry

^c Department of Surgery ^*

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Adenosinetriphosphatase genetics; Ceruloplasmin; Copper metabolism; Hepatolenticular degeneration; Liver diseases

Indexed keywords

CERULOPLASMIN; COPPER; PENICILLAMINE; WILSON DISEASE PROTEIN;

ADULT; ARTICLE; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CLINICAL EXAMINATION; CODON; COPPER BLOOD LEVEL; DRUG TOLERANCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; LABORATORY TEST; MALE; URINARY EXCRETION; WILSON DISEASE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; CERULOPLASMIN; CHILD; CHILD, PRESCHOOL; COPPER; DIAGNOSTIC ERRORS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; MALE; REFERENCE VALUES;

EID: 33646471701     PISSN: 10242708     EISSN: 10242708     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Wilson SA. Progressive lenticular degeneration. A familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295-509.
2. Yarze JC, Munoz SJ, Friedman LS. Diagnosing Wilson disease. Ann Intern Med 1992;117:91.
3. Tsai CH, Tsai FJ, Wu JY, et al. Mutation analysis of Wilson disease in Taiwan and description of six new mutations. Hum Mutat 1998; 12:370-6.
4. Kim EK, Yoo OJ, Song KY, et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 1998;11:275-8.
5. Burtis CA, Ashwood ER, editors. Tietz textbook of clinical chemistry. Pennsylvania: WB Saunders; 1999.
6. O'Donnell JG, Watson ID, Fell GS, Allison ME, Russell RI, Mills PR. Wilson's disease presenting as acute fulminant hepatic failure. Scott Med J 1990;35:118-9.
7. Twomey PJ, Viljoen A, House IM, Reynolds TM, Wierzbicki AS. Relationship between serum copper, ceruloplasmin, and non-ceruloplasmin-bound copper in routine clinical practice. Clin Chem 2005;51:1558-9.
8. Steindl P, Ferenci P, Dienes HP, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997;113:212-8.
9. Soldin SJ, Brugnara C, Wong EC, editors. Pediatric reference ranges. Washington DC: AACC press; 2003.
10. Shimizu N, Nakazono H, Takeshita Y, et al. Molecular analysis and diagnosis in Japanese patients with Wilson's disease. Pediatr Int 1999;41:409-13.
11. McDonald JA, Snitch P, Painter D, Hensley W, Gallagher ND, McCaughan GW. Striking variability of hepatic copper levels in fulminant hepatic failure. J Gastroenterol Hepatol 1992;7:396-8.
12. Marcellini M, Di Ciommo V, Callea F, et al. 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;145:139-43.
13. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42.
14. Wang XP, Wang XH, Bao YC, Zhou JN. Apolipoprotein E genotypes in Chinese patients with Wilson's disease. QJM 2003;96:541-2.
15. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 2004;82:629-34.
16. ATPase, copper transporting, beta polypeptide. The Human Gene Mutation Database website: http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120494.html. Accessed 15 Nov 2005.
17. Hawkes ND, Mutimer D, Thomas GA. Generalised oedema, lethargy, personality disturbance, and recurring nightmares in a young girl. Postgrad Med J 2001;77:529,537-9.
18. Liu XQ, Zhang YF, Liu TT, et al. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 2004;10:590-3.