Late onset of Wilson's disease;Morbo di Wilson ad esordio tardivo

Pathologica

Volumn 96, Issue 3, 2004, Pages 105-110

  Pilloni, Luca ^a   Coni, P ^a   Mancosu, G ^a   Lecca, S ^a   Serra, S ^a   Demelia, L ^a   Pilleri, G ^b   Spiga E ^c   Ambu, R ^a   Faa, G ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b BROTZU HOSPITAL   (Italy)

^c Ospedale Santa Barbara   (Italy)

Author keywords

Copper; Liver; Wilson's disease

Indexed keywords

ADENINE; COPPER; GUANINE; RHODANINE;

5' UNTRANSLATED REGION; ADULT; ADULTHOOD; ARTICLE; CHRONIC LIVER DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FATTY LIVER; FEMALE; HEPATITIS; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER DISEASE; LIVER FIBROSIS; MALE; METABOLIC DISORDER; MUTATIONAL ANALYSIS; ONSET AGE; PATIENT SELECTION; POPULATION GENETICS; PREVALENCE; WILSON DISEASE;

ADULT; AGE OF ONSET; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MIDDLE AGED;

EID: 20044367445     PISSN: 00312983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Scheinberg IH, Sternlieb I. Wilson disease. Ann Rev Med 1965;16:119-34.
2. Bearn AG. Wilson Disease. In: Stanbury JB, Wyngaarden JB, Fredrikson Ds, eds. The metabolic basis of inherited disease (2nd) New York: McGraw-Hill 1966, pp. 771-779.
3. Goldfischer S, Sternlieb I. Changes in the distribution of hepatic copper in relation to the progression of Wilson's disease (Hepatolenticular degeneration). Am J Pathol 1968;53:883-94.
4. Roberts EA, Cox DW. Wilson disease. Baillieres Clin Gastroenterol 1998;12:237-56.
5. Sinha S, JHE DK, Sinha KK. Wilson's disease in Easter India. J Assoc Physicians India Sup 2001;49:881-4.
6. Frydman M, Bonne Tamir B, Farrer LA, Conneally PM, Magazanik A, Ashbel A, et al. Assignment of the gene of Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci 1985;82:1819-21.
7. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, et al. Wilson's disease gene is a trasporting ATPase with homology to the Menkes disease gene. Nature Genetics 1993;5:344-50.
8. Cox DW. Genes of copper pathway. Am J Hum Genet 1995; 56:828-34.
9. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sterlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42.
10. Cox DW. Wilson's disease: gene cloning and its applications. In: Proceding of Acts of the American Association for the Study of Liver Disease. Chicago 3-4 novembre 1995, pp. 163-169.
11. Thomas GR, Roberts EA, Walshe JM, Cox DW. Haplotypes and mutations in Wilson's disease. Am J Hum Genet 1995;56:1315-9.
12. Cox DW, Thomas GR, Walshe JM. Mutations of the Wilson's disease gene and their consequences. Z Gastroenterol 1995; 33:475(A).
13. Schilsky ML. Wilson disease: genetic basic of copper tossicity and natural story. Semin Liver Dis 1996;16:83-95.
14. Hevi FH, Herra S, Vargas M, Gonzales M, Ramirez JA, Hayashi H, et al. Fulminant Wilson's disease in Costa Rica. Histopathology and clinical study of 12 cases. Z Gastroenterol 1995; 33:478(A).
15. Sternlieb I, Scheinberg IH. Wilson's disease. In: Schaffer F, Sherlock S, Leevy C, eds. The liver and its diseases. New York: Intercontinental Press 1974, pp. 328.
16. Scheinberg IH, Sternlieb I. Wilson's disease. Vol XXIII. Major problems in internal medicine. Philadephia: W.B. Saunders Company 1984.
17. Arixa M, Komoxa K, Kamoshita S, Murai N. Clinical characteristic in W.D. under ten years of age. Tokio: Paediatria Univ 1963; 9:17-22.
18. Lau JYN, Lai CL, Wu PC, Pan HYM, Lin HJ, Todd D. Wilson's disease: 35 years' esperience. Q J Med, New Series 1990;278:597-605.
19. Fitzgerald MA, Gross JB, Goldstein NP, Wahner HW, McCall JT. Wilson's disease (Hepatolenticular Degeneration) of late adult onset: Report of case. Majo Clin Proc 1975;50:438-42.
20. Madden JW, Ironside JW, Triger DR, Bradshaw JP. An unusual case of Wilson's disease. Q J Med 1985;55:63-73.
21. Aksoy M, Erdem S. Wilson's in Turkey: A review of 49 cases in 41 families. New Istambul Contribution Clin Sci 1975;11:92-7.
22. Strickland GT, Frommer DL, Leu ML, Pollard R, Sherlock S, Cumings JN. Wilson's disease in the United Kingdom and Taiwan. Q J Med 1973; 42:619-38.
23. Giagheddu A, Demelia L, Puggioni G, Nurchi AM, Contu L, Pirai G, et al. Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983). Acta Neurol Scand 1985;72:43-55.
24. Sternlieb I. Diagnosis of Wilson's disease. Gastroenterology 1978;74:787-9.
25. Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, et al. Molecolar characterization of Wilson disease in the Sardinian population evidence of a founder effect. Hum Mutat 1999;14:294-303.
26. Loudianos G, Dessi V, Lovicu M, Angius A, Nurchi AM, Sturnialo GC, et al. Further delimitation of the molecular pathology of Wilson disease in the mediterranean population. Hum Mutat 1998;12:89-94.
27. Goldfischer S, Popper H, Sternlieb I. The significance of variations in the distribution of copper in liver disease. Am J Pathol 1980;99:715-30.
28. Shikata T, Uzawa T, Yoshiwara N, Akatsuka T, Yamazaky S. Staining methods of Australian Antigen in paraffin sections. Jap J Exp Med 1974;44:25-36.
29. Timm F. Zur Istochemie der Schwermetalle das Sulfiberverfahren. Deut Z Ges Gerichtl Med 1958;46:706-11.
30. Timm F. Der Istochemische Nachweis des Kupfers in Gehirn Histochemie 1961;2:332-41.
31. Dobyns WB, Goldstein NP, Gordon H. Clinical spectrum of Wilson's disease. Majo Clin Proc 1979;54:35-42.
32. Lindquist R. Studies on the pathogenesis of Hepatolenticular Degeneration. Arch Pathol Lab Med 1969;87:370-9.
33. Faa G. Il ruolo del patologo nella diagnosi e nel monitoraggio del morbo di Wilson. Pathologica 1996;88:102-10.
34. Lecca S, Pilloni L, Ambu R, Flore C, Callea F, Faa G. Il ruolo dello studio istochimico nella diagnosi di Morbo di Wilson. Pathologica 1998; 90:771-5.
35. Silverbeg M, Gellis SS. The liver in juvenile Wilson's disease. Peiatrics 1962;30:402-13.
36. McCullough AJ, Dickson ER. Diagnosis of Wilson Disease. presenting as fulminant hepatic failure. Gastroenterology 1983;84:161-7.
37. Scot J, Gollan JL, Samouraian S, Sherlock S. Wilson's disease presenting as chronic active hepatitis. Gastroenterology 1978;74:645-51.
38. Lossner J, Bachman H, Biesold D, Rucholtz U, Storch W. Untersuchungen zur Wilsonshen er Krankung in der DDR. Z Ges Inn Med 1980;35:136-40.
39. Dening TR, Berrios GE. Wilson's disease: clinical groups in 400 cases. Acta Neurol Scand 1989;80:527-34.
40. Czlonkowska A, Rodo M. Late onset of Wilson's disease. Arch Neurol 1981;38:729-730.
41. Orrù S, Thomas G, Loizedda A, Cox DW, Contu L. 24 bp Deletion and ALA 1278 to VAL Mutation of the ATP7B Gene in a Sardinian Family With Wilson Disease. Human Mutation 1997;10:84-5.
42. LaRusso NF, Summerskill WHJ, McCall JT. Abnormalities of chemical tests for copper metabolism in chronic active liver disease: differentiation from Wilson's disease. Gastroenterology 1976; 70:653-5.
43. Jonson RC, DeFord JW, Lebhart RJ. Chronic active hepatitis and cirrosis in Wilosn's disease. South Med J 1977;70:353-4.
44. Sternieb I, Scheinber IH. Chronic hepatitis as first manifestations of Wilson's disease. Ann Inter Med 1972;76:59-64.
45. Sternlieb I. Fraternal concordance of types of abnormal hepatocellular mitochondria in Wilson's disease. Hepatology 1992;16:728-32.
46. Czlonkowska A, Houwen RHJ, Juyn J, Gajda J, Rodo M. H714Q mutation in Wilson's disease in Poland. Z Gastroenterol 1995:472-90.