Souto SR, Curvo R, Carneiro S, Ferreira O, Porto LC, Macedo FJC

Language: Portugués
References: 11
Page: 56-59
PDF size: 97.87 Kb.

ABSTRACT

The Porphyria Cutanea Tarda (PCT) is a disease that generates photosensitivity by the accumulation of porphyries due to the metabolism of the overload of iron amount. The consequences of such mistake can be biochemically observed through the urinary porphyries, serum ferritine, among other parameters. Mutations in the gene HFE1 have been associated not only to the prognosis, but also to the development of the PCT. In this study we had analyzed in 11 patients, assisted at the dermatological outpatient clinic of the Hospital Universitário Pedro Ernestro (HUPE), the genotypes of the gene HFE1 to the mutations H63D, S65C, and C28y, as well as the levels of serum ferritine.
Material and methods: We performed our study in 11 patients diagnosed with PCT at the dermatological outpatient clinic at the HUPE, who have agreed to the Terms of Consent (TC) for the study. It had been collected both urine and blood samples to the biochemical analysis of urine-porphyries, as well as the levels of iron/serum ferritine respectively. The blood sample had also been utilized to detect mutations H63D, S65C, and C282Y by PCR in real timing, and sequencing.
Results and comments: It had been observed in eight patients a high level of serum ferrite (72%); six patients had been identified as carriers of at least one focus of the mutation D63 (54%): five were heterozygous patients (45%); and one homozygous patient (9%). It had not been observed the presence of mutations S65C, and C282Y in any of the patients. Mutations of the gene HFE1 have been noticed relevant to the prognosis of the PCT in various international studies. Nevertheless, it has not been possible to determine the same relevance on our study probably due to the reduced number of patients. However, this study shows that the dynamics of the gene mutations HFE1 and its relevance in the population of shows differences among populations from other places affected by the PCT.

REFERENCES

1. Frank J. The porphyrias. In: Freedberg IM, Eisen AZ, Wolff K, et al. Fitzpatick’s Dermatology in Medicine. 6th ed. New York, NY: McGraw-Hill; 2003: 1435-66.

2. Drage LA, Brandhagen DJ, Pittelkow MR. Association of porphyria cutanea tarda with hereditary haemochromatosis. J Am Acad Dermatol 2004; 51: 205-11.

3. Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 321-3.

4. Ellervik Ch, Birgens H, Tybjćrg-Hansen A, Břrge G. Nordestgaard BG. Hemochromatosis Genotypes and Risk of 31 Disease Endpoints: Meta- Analyses Including 66,000 Cases and 226,000 Controls. Hepatology 2007; 46: 1071-80.

5. Silva MM, Trope B, Fonseca JCM, Maceira J, Figueira A. Porfiria Cutanea Tardia Sintomatica. Ana Brasil Dermatol 1990; 65: 196-7.

6. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.

7. Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352: 1769-78.

8. Martinelli AL, Filho R, Cruz S, Franco R, Tavella M, Secaf M et al. Hereditary hemochromatosis in a Brazilian university hospital in Sao Paulo State (1990-2000). Genet Mol Res 2005; 4: 31-8.

9. Martinelli AL, Zago MA, Roselino AM, Filho AB, Villanova MG, Secaf M, et al. Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol 2000; 95: 3516-21.

10. Bonkovsky, HL, Poh-Fitzpatrick M, Pimstone, N, Obando J, Di Bisceglie A, Tattrie C et al. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 1998; 27: 1661-9.

11. Stolzel U, Kostler E, Schuppan D, Richter M, Wollina U, Doss MO, et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 2003; 139: 309-13.