Dermatology (Basel, Switzerland) · 2008
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
Сравнительное исследованиеСтатьяМногоцентровое исследованиеПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Cribier Bernard, Chiaverini Christine, Dali-Youcef Nassim, Schmitt Michèle, Grima Michèle, Hirth Christine, Lacour Jean-Philippe, Chosidow Olivier
Аннотация
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.
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.