Tags

Type your tag names separated by a space and hit enter

Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Dermatology. 2009; 218(1):15-21.D

Abstract

BACKGROUND

Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.

OBJECTIVE

In order to examine the links between these factors, we conducted a multicentre prospective case-control study.

METHODS

PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.

RESULTS

PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.

CONCLUSION

In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.

Authors+Show Affiliations

Clinique Dermatologique, Université Louis Pasteur, Faculté de Médecine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. bernard.cribier@chru-strasbourg.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19001803

Citation

Cribier, Bernard, et al. "Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene. a Case-control Study." Dermatology (Basel, Switzerland), vol. 218, no. 1, 2009, pp. 15-21.
Cribier B, Chiaverini C, Dali-Youcef N, et al. Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology (Basel). 2009;218(1):15-21.
Cribier, B., Chiaverini, C., Dali-Youcef, N., Schmitt, M., Grima, M., Hirth, C., Lacour, J. P., & Chosidow, O. (2009). Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology (Basel, Switzerland), 218(1), 15-21. https://doi.org/10.1159/000173696
Cribier B, et al. Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene. a Case-control Study. Dermatology (Basel). 2009;218(1):15-21. PubMed PMID: 19001803.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. AU - Cribier,Bernard, AU - Chiaverini,Christine, AU - Dali-Youcef,Nassim, AU - Schmitt,Michèle, AU - Grima,Michèle, AU - Hirth,Christine, AU - Lacour,Jean-Philippe, AU - Chosidow,Olivier, Y1 - 2008/11/12/ PY - 2008/04/28/received PY - 2008/07/21/accepted PY - 2008/11/13/pubmed PY - 2009/3/20/medline PY - 2008/11/13/entrez SP - 15 EP - 21 JF - Dermatology (Basel, Switzerland) JO - Dermatology (Basel) VL - 218 IS - 1 N2 - BACKGROUND: Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed. OBJECTIVE: In order to examine the links between these factors, we conducted a multicentre prospective case-control study. METHODS: PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR. RESULTS: PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls. CONCLUSION: In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels. SN - 1421-9832 UR - https://www.unboundmedicine.com/medline/citation/19001803/Porphyria_cutanea_tarda_hepatitis_C_uroporphyrinogen_decarboxylase_and_mutations_of_HFE_gene__A_case_control_study_ L2 - https://www.karger.com?DOI=10.1159/000173696 DB - PRIME DP - Unbound Medicine ER -