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Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.
Acta Derm Venereol. 2003; 83(2):115-20.AD

Abstract

The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda were classified according to uroporphyrinogen decarboxylase and haemochromatosis gene mutations and the genotype related to the clinical and biochemical data. Thirteen patients (25%) had familial porphyria cutanea tarda. The results signify the advantage of DNA diagnostics for identification of familial cases, as anamnestic data are doubtful and erythrocyte uroporphyrinogen decarboxylase activity measurements insufficient for correct classification. Eight patients with porphyria cutanea tarda (15%) were homozygous for the haemochromatosis gene C282Y mutation and 8 patients were heterozygous. Patients homozygous for the haemochromatosis related mutation showed biochemical evidence of excessive iron storage as well as increased urine porphyrin excretion levels. This seems to confirm a relationship between porphyria cutanea tarda and haemochromatosis. No differences were found between patients with sporadic and familial porphyria cutanea tarda regarding age of onset, clinical severity, sex distribution, liver function tests and iron storage parameters. However, daily alcohol intake and use of oestrogens were reported more frequently in the group of sporadic patients. It was found that women were over-represented in our study.

Authors+Show Affiliations

Department of Dermatology, Odense University Hospital, Odense. Denmark. bygum@dadlnet.dkNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12735639

Citation

Bygum, Anette, et al. "Familial and Sporadic Porphyria Cutanea Tarda: Clinical, Biochemical and Genetic Features With Emphasis On Iron Status." Acta Dermato-venereologica, vol. 83, no. 2, 2003, pp. 115-20.
Bygum A, Christiansen L, Petersen NE, et al. Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. Acta Derm Venereol. 2003;83(2):115-20.
Bygum, A., Christiansen, L., Petersen, N. E., Hørder, M., Thomsen, K., & Brandrup, F. (2003). Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. Acta Dermato-venereologica, 83(2), 115-20.
Bygum A, et al. Familial and Sporadic Porphyria Cutanea Tarda: Clinical, Biochemical and Genetic Features With Emphasis On Iron Status. Acta Derm Venereol. 2003;83(2):115-20. PubMed PMID: 12735639.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. AU - Bygum,Anette, AU - Christiansen,Lene, AU - Petersen,Niels Erik, AU - Hørder,Mogens, AU - Thomsen,Kristian, AU - Brandrup,Flemming, PY - 2003/5/9/pubmed PY - 2003/9/17/medline PY - 2003/5/9/entrez SP - 115 EP - 20 JF - Acta dermato-venereologica JO - Acta Derm. Venereol. VL - 83 IS - 2 N2 - The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda were classified according to uroporphyrinogen decarboxylase and haemochromatosis gene mutations and the genotype related to the clinical and biochemical data. Thirteen patients (25%) had familial porphyria cutanea tarda. The results signify the advantage of DNA diagnostics for identification of familial cases, as anamnestic data are doubtful and erythrocyte uroporphyrinogen decarboxylase activity measurements insufficient for correct classification. Eight patients with porphyria cutanea tarda (15%) were homozygous for the haemochromatosis gene C282Y mutation and 8 patients were heterozygous. Patients homozygous for the haemochromatosis related mutation showed biochemical evidence of excessive iron storage as well as increased urine porphyrin excretion levels. This seems to confirm a relationship between porphyria cutanea tarda and haemochromatosis. No differences were found between patients with sporadic and familial porphyria cutanea tarda regarding age of onset, clinical severity, sex distribution, liver function tests and iron storage parameters. However, daily alcohol intake and use of oestrogens were reported more frequently in the group of sporadic patients. It was found that women were over-represented in our study. SN - 0001-5555 UR - https://www.unboundmedicine.com/medline/citation/12735639/Familial_and_sporadic_porphyria_cutanea_tarda:_clinical_biochemical_and_genetic_features_with_emphasis_on_iron_status_ L2 - https://www.medicaljournals.se/acta/content/abstract/10.1080/00015550310007454 DB - PRIME DP - Unbound Medicine ER -