Fulminant wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation: Case report

K. M. Kegley, M. A. Sellers, M. J. Ferber, M. W. Johnson, D. W. Joelson, R. Shrestha

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Acute decompensated Wilson's disease (WD) that presents as fulminant hepatic failure carries significant mortality without hepatic replacement. The abnormal gene implicated in WD, ATP7B, has been mapped to chromosome 13, and leads to decreased passage of copper from hepatocytes to bile. Excess copper accumulation exceeds hepatocyte storage capacity resulting in intracellular necrosis, apoptosis and cell death in various organs of the body. The hepatic injury induced by the abnormal accumulation of copper in WD has variable presentation such as acute hepatitis, rapid hepatic deterioration resembling fulminant hepatic failure, or as progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis. There are reports in the literature describing monozygotic (identical) twins with similar hepatic progression requiring liver transplantation, however, with different neurological outcome after transplant. We report a case of one monozygotic twin presenting with acute liver failure requiring emergent liver transplantation while the other twin presented with mild liver disease, when both shared an identical genetic mutation.

Original languageEnglish (US)
Pages (from-to)1325-1329
Number of pages5
JournalAmerican Journal of Transplantation
Volume10
Issue number5
DOIs
StatePublished - May 2010

Fingerprint

Hepatolenticular Degeneration
Monozygotic Twins
Liver Transplantation
Acute Liver Failure
Copper
Mutation
Liver
Liver Diseases
Hepatocytes
Chromosomes, Human, Pair 13
Chronic Hepatitis
Bile
Hepatitis
Fibrosis
Chronic Disease
Cell Death
Necrosis
Apoptosis
Transplants
Mortality

Keywords

  • End-stage liver disease
  • Liver failure
  • Liver transplantation
  • Twins
  • Wilson's disease

ASJC Scopus subject areas

  • Transplantation
  • Immunology and Allergy
  • Pharmacology (medical)

Cite this

Fulminant wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation : Case report. / Kegley, K. M.; Sellers, M. A.; Ferber, M. J.; Johnson, M. W.; Joelson, D. W.; Shrestha, R.

In: American Journal of Transplantation, Vol. 10, No. 5, 05.2010, p. 1325-1329.

Research output: Contribution to journalArticle

Kegley, K. M. ; Sellers, M. A. ; Ferber, M. J. ; Johnson, M. W. ; Joelson, D. W. ; Shrestha, R. / Fulminant wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation : Case report. In: American Journal of Transplantation. 2010 ; Vol. 10, No. 5. pp. 1325-1329.
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