Tags

Type your tag names separated by a space and hit enter

Genetic aspects of porphyria cutanea tarda.
Semin Liver Dis. 2007 Feb; 27(1):99-108.SL

Abstract

Porphyria cutanea tarda (PCT) is caused by disruption of heme biosynthesis at the step catalyzed by uroporphyrinogen decarboxylase. The patients present with photosensitive cutaneous lesions, hepatic pathology (including elevated porphyrin levels), and increased excretion of porphyrins. Therapy consists of removing the exacerbating factors of PCT (reduced sunlight exposure, abstinence from alcohol use, decreased estrogen exposure, and treatment for viral infections), decreasing body iron stores (by therapeutic phlebotomy or by the use of the new orally active iron chelators), and, in some instances, the use of low-dose antimalarials. Recent advances in genetics and genomics have allowed DNA testing for porphyria cutanea tarda and are likely to be instrumental in developing improved, gene-based treatments and in finding genetic loci (in addition to uroporphyrinogen decarboxylase) involved in the clinical expression of this disease.

Authors+Show Affiliations

Department of Pharmacology, and The Liver-Biliary-Pancreatic Center, University of Connecticut Health Center, Farmington, Connecticut 06030-1119, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

17295179

Citation

Lambrecht, Richard W., et al. "Genetic Aspects of Porphyria Cutanea Tarda." Seminars in Liver Disease, vol. 27, no. 1, 2007, pp. 99-108.
Lambrecht RW, Thapar M, Bonkovsky HL. Genetic aspects of porphyria cutanea tarda. Semin Liver Dis. 2007;27(1):99-108.
Lambrecht, R. W., Thapar, M., & Bonkovsky, H. L. (2007). Genetic aspects of porphyria cutanea tarda. Seminars in Liver Disease, 27(1), 99-108.
Lambrecht RW, Thapar M, Bonkovsky HL. Genetic Aspects of Porphyria Cutanea Tarda. Semin Liver Dis. 2007;27(1):99-108. PubMed PMID: 17295179.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic aspects of porphyria cutanea tarda. AU - Lambrecht,Richard W, AU - Thapar,Manish, AU - Bonkovsky,Herbert L, PY - 2007/2/14/pubmed PY - 2007/4/4/medline PY - 2007/2/14/entrez SP - 99 EP - 108 JF - Seminars in liver disease JO - Semin. Liver Dis. VL - 27 IS - 1 N2 - Porphyria cutanea tarda (PCT) is caused by disruption of heme biosynthesis at the step catalyzed by uroporphyrinogen decarboxylase. The patients present with photosensitive cutaneous lesions, hepatic pathology (including elevated porphyrin levels), and increased excretion of porphyrins. Therapy consists of removing the exacerbating factors of PCT (reduced sunlight exposure, abstinence from alcohol use, decreased estrogen exposure, and treatment for viral infections), decreasing body iron stores (by therapeutic phlebotomy or by the use of the new orally active iron chelators), and, in some instances, the use of low-dose antimalarials. Recent advances in genetics and genomics have allowed DNA testing for porphyria cutanea tarda and are likely to be instrumental in developing improved, gene-based treatments and in finding genetic loci (in addition to uroporphyrinogen decarboxylase) involved in the clinical expression of this disease. SN - 0272-8087 UR - https://www.unboundmedicine.com/medline/citation/17295179/Genetic_aspects_of_porphyria_cutanea_tarda_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2006-960173 DB - PRIME DP - Unbound Medicine ER -