| Full text | |
| Author(s): |
Jorge Vieira, Fatima Mendonca
[1]
;
Nakhle, Maria Cristina
[1]
;
Abrantes-Lemos, Clarice Pires
[1]
;
Rachid Cancado, Eduardo Luiz
[1]
;
Silva dos Reis, Vitor Manoel
[1]
Total Authors: 5
|
| Affiliation: | [1] Univ Sao Paulo, Sch Med, Dept Gastroenterol, Clin Div, Hepatol Branch, Sao Paulo - Brazil
Total Affiliations: 1
|
| Document type: | Journal article |
| Source: | ANAIS BRASILEIROS DE DERMATOLOGIA; v. 88, n. 4, p. 530-540, JUL-AUG 2013. |
| Web of Science Citations: | 8 |
| Abstract | |
BACKGROUND: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES: Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations. METHODS: An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR. RESULTS: Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors. CONCLUSIONS: Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients (AU) | |
| FAPESP's process: | 10/51781-4 - Porphyria cutanea tarda with C282Y and H63D hemochromatosis gene mutations and retrospective analysis of the iron profile regarding the treatment: study of 50 cases |
| Grantee: | vitor manoel silva dos reis |
| Support Opportunities: | Regular Research Grants |