Use of the stable isotope 65Cu test for the screening of Wilson's disease in a family with two affected members

Italian Journal of Gastroenterology and Hepatology

Volumn 30, Issue 3, 1998, Pages 270-275

  Merli, M ^a   Patriarca, M ^b   Loudianos, G ^a   Valente, C ^a   Riggio, O ^a   Di Felice, G ^b   Petrucci, F ^a   Caroli, S ^b   Attili, A F ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b Territorial Department of Nephrology and Dialysis   (Italy)

Author keywords

65cu test; Stable isotope; Wilson's disease

Indexed keywords

CERULOPLASMIN; COPPER; COPPER 65; STABLE ISOTOPE; UNCLASSIFIED DRUG; DIAGNOSTIC AGENT; DNA; ISOTOPE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; COPPER METABOLISM; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LIVER; LIVER CIRRHOSIS; MALE; MASS SPECTROMETRY; PRESCHOOL CHILD; SCREENING; WILSON DISEASE; GENETICS; METABOLISM; MIDDLE AGED;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; COPPER; DNA; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; ISOTOPES; MALE; MASS SPECTROMETRY; MIDDLE AGED;

EID: 0031595765     PISSN: 11258055     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Scheinberg H. Wilson's disease. In Isselbacher KJ, Braunwald E, Wilson JD, Martin JB, Fauci AS, Kasper DL, editors. Harrison's principles of internal medicine, 13th ed., New York: Me Graw Hill, Inc., 1994;2088-90.
2. Yarze J, Martin P, Munoz S, Friedman L. Wilson's disease: current status. Am J Med 1992;92:643-52.
3. Park RHR, McCabe P, Fell GS, Russell RI. Wilson's disease in Scotland. Gut 1991; 32:1541-5
4. Giagheddu A, Dorocca L, Puggioni G, Nurchi DM, Contu L, Pirari G, et al. Epidemiologie study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983). Acta Neurol Scand 1985:72:43-55.
5. Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson's disease gene. Nature Genet 1993;5:338-43.
6. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995;9:210-17.
7. Cox DW. Genes of the copper pathway. Am J Hum Genet 1995;56:828-34.
8. Chowrimooto GFE, Ahmed HA, Seymour CA. New insights into the pathogenesis of copper toxicosis in Wilson's disease: evidence for copper incorporation and defective canalicular transport of caeruloplasmin. Biochem J 1996;315:851-5.
9. Stremmel W, Meyerrose KW, Niederau C, Hefter H, Kreuzpaintner G. Strohmeyer G. Wilson disease: clinical presentation, treatment and survival. Ann Intern Med 1991:115:720-6.
10. Frommer D, Morris J, Sherlock S. Kayser-Fleischer-like rings in patients without Wilson's disease. Gastroenterology 1977;72:1331-5.
11. Evans J, Newman S, Sherlock S. Liver copper levels in intrahepatic cholestasis of childhood. Gastroenterology 1978:5:875-8.
12. Collins JC, Scheinberg IH, Sternlieb I. Penicillamine prophylaxis for asymptomatic children with Wilson's disease. Hepatology 1993;18:A128.
13. Gaffney D, Walker JL, O'Donnell JG. DNA-based presymptomatic diagnosis of Wilson's disease. J Inher Metab Dis 1992;15:161-70.
14. Dobersberger TM, Mannhalter C, Rack S, Granditsch G, Kaserer K, Kominger L, et al. Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology 1995:109:2015-8.
15. Smith HL. Diagnosis of Wilson's disease using DNA linkage analysis. Gastroenterology 1996;110:2025-7(Letter).
16. Tauxe WN, Goldstein NP, Randall RV, Gross JB. Radiocopper studies in patients with Wilson's disease and their relatives. Am J Med 1966:41:375-80.
17. Sternlieb I, Scheinberg H. The role of radiocopper in the diagnosis of Wilson's disease. Gastroenterology 1979;77:138-42.
18. Lyon TDB, Fell GS, Gaffney D, McGaw BA, Russell RI, Park RHR, et al. Use of a stable copper isotope (Cu65) in the differential diagnosis of Wilson's disease. Clin Sei 1995;88:727-32.
19. Lyon TDB, Fell GS. Isotopic composition of copper in serum by inductively coupled plasma mass spectrometry. J Anal At Spectrom 1990;5:135-7.
20. Holden NE. Table of the isotopes. In: Lide D.R., editor. Hand-book of chemistry and physics. 77th ed. Boca Raton: CRC Press Inc. 1996.
21. Figus AL, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 1995:57:1318-24.
22. Loudianos G, Dessi V, Angius A, Lovicu M, Loi A, Deiana M, et al. Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. Human Genet 1996:98:640-2.
23. Sanger F, Micklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sei USA 1997;74:5463-7.
24. 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; 113:212-8.