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Semin Liver Dis 1998; 18(1): 67-75
DOI: 10.1055/s-2007-1007142
ORIGINAL ARTICLE

© 1998 by Thieme Medical Publishers, Inc.

Porphyria Cutanea Tarda

George H. Elder
  • Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff UK
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Publication History

Publication Date:
17 March 2008 (online)

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ABSTRACT

Porphyria cutanea tarda (PCT) is a skin disease that results from decreased activity of uroporphyrinogen decarboxylase (UROD). About 80% of patients have the sporadic (type I) form in which UROD deficiency is restricted to the liver. Others have familial (type II) PCT in which mutations in the UROD gene are inherited in an autosomal dominant pattern with low clinical penetrance. PCT may also follow exposure to porphyrogenie chemicals. Clinically overt PCT (types I and II) is provoked by liver cell injury, particularly when associated with alcohol abuse, hepatitis C infection, or estrogens. Hepatic iron overload is common, depletion of iron stores produces remission, and their replenishment leads to relapse. In PCT, hepatic UROD is inactivated by a process targeted at its catalytic site, which is iron-dependent, requires a heme precursor, and may be accelerated by induction of cytochrome P450s. Susceptibility to develop PCT in response to common causes of liver injury may be determined by co-inheritance of genes that regulate components of this inactivation process.

KEY WORDS

uroporphyria - uroporphyrinogen decarboxylase - pathogenesis - mutations

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