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Wilson's disease: a common liver disorder?
Can Med Assoc J. 1977 Jul 09; 117(1):45-8.CM

Abstract

In two sibships 7 of 24 siblings were homozygous for Wilson's disease. In family A, the largest kindred of this recessively inherited disease thus far reported, the proband presented with chronic active hepatitis, one sibling died of cirrhosis, a second had clinical evidence of chronic liver disease and two others had biochemical and histologic changes in liver biopsy specimens. In family B the proband had cirrhosis and portal hypertension and one sibling had biochemical and histologic evidence of liver disease. All six living patients had low serum concentrations of ceruloplasmin and copper and a high 24-hour urinary excretion of copper, which was greatly increased by administration of D-penicillamine. None showed neurologic abnormalities and only one had Kayser-Fleischer rings (detectable only by slit-lamp examination). Each patient had an erythrocyte sedimentation rate (ESR) of 8 mm/h or less. After 3 and 2 years, respectively, of D-penicillamine therapy the conditions of the two probands had improved. Liver function became normal in three siblings, and no abnormalities developed in the remaining one. Thus, since Wilson's disease may present with chronic active hepatitis or cirrhosis with a normal ESR and without ocular or neurologic signs, it may be a more common cause of liver disease in young people than has been appreciated.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

861910

Citation

Thompson, W G., et al. "Wilson's Disease: a Common Liver Disorder?" Canadian Medical Association Journal, vol. 117, no. 1, 1977, pp. 45-8.
Thompson WG, Hyslop PS, Barr R, et al. Wilson's disease: a common liver disorder? Can Med Assoc J. 1977;117(1):45-8.
Thompson, W. G., Hyslop, P. S., Barr, R., & Sass-Kortsak, A. (1977). Wilson's disease: a common liver disorder? Canadian Medical Association Journal, 117(1), 45-8.
Thompson WG, et al. Wilson's Disease: a Common Liver Disorder. Can Med Assoc J. 1977 Jul 9;117(1):45-8. PubMed PMID: 861910.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Wilson's disease: a common liver disorder? AU - Thompson,W G, AU - Hyslop,P S, AU - Barr,R, AU - Sass-Kortsak,A, PY - 1977/7/9/pubmed PY - 1977/7/9/medline PY - 1977/7/9/entrez SP - 45 EP - 8 JF - Canadian Medical Association journal JO - Can Med Assoc J VL - 117 IS - 1 N2 - In two sibships 7 of 24 siblings were homozygous for Wilson's disease. In family A, the largest kindred of this recessively inherited disease thus far reported, the proband presented with chronic active hepatitis, one sibling died of cirrhosis, a second had clinical evidence of chronic liver disease and two others had biochemical and histologic changes in liver biopsy specimens. In family B the proband had cirrhosis and portal hypertension and one sibling had biochemical and histologic evidence of liver disease. All six living patients had low serum concentrations of ceruloplasmin and copper and a high 24-hour urinary excretion of copper, which was greatly increased by administration of D-penicillamine. None showed neurologic abnormalities and only one had Kayser-Fleischer rings (detectable only by slit-lamp examination). Each patient had an erythrocyte sedimentation rate (ESR) of 8 mm/h or less. After 3 and 2 years, respectively, of D-penicillamine therapy the conditions of the two probands had improved. Liver function became normal in three siblings, and no abnormalities developed in the remaining one. Thus, since Wilson's disease may present with chronic active hepatitis or cirrhosis with a normal ESR and without ocular or neurologic signs, it may be a more common cause of liver disease in young people than has been appreciated. SN - 0008-4409 UR - https://www.unboundmedicine.com/medline/citation/861910/Wilson's_disease:_a_common_liver_disorder L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/861910/ DB - PRIME DP - Unbound Medicine ER -