Artículo
Stella, A.M.; Melito, V.E.; Melito, V.A.; Noriega, G.; Muramatsu, H.; Tomassi, L.; Magnin, P.H.; Del Batlle, A.M.C. "Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares" (1998) Revista Argentina de Dermatologia. 79(3):144-152
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Abstract:
Seven patients with hereditary coproporphyria (HCP) and 14 relatives from six families have been studied. Three of seven patients (43%) exhibited cutaneous signs, hyperpigmentation, photosensitivity and all of them presented acute neurovisceral attacks. Biochemical parameters of the HCP patients showed an increase of 5-aminolevulinic acid (ALA) (3.9 - 14.1 mg/24h.), porphobilinogen (PEG) (6.5 - 47.9 mg/24h) and total porphyrins (645 - 31129 μg/ 24h)in urine, which diminished when they reached remission (ALA: 0.2 - 5.3 mg/24hs; PBG: 0.8 -25.2 mg/24h, total porphyrins: 112 - 952 μg/24h, Normal Values: ALA: 2-4 mg/24h, PBG: 1-2 mg/ 24h, total porphyrins: 20 - 250 μg/24h). The fecal porphyrins were also increased during the acute phase (316 - 50,056 μg/g wet) and reduced in remission (165 -1600 μg/g wet). The pattern of urinary porphyrins showed a high concentration of coproporphyrin, and emission wavelengt at 618 nm of the plasma porphyrins allowed to distinguish this porphyria from variegate prophyria (VP). Treatment of the acute attack of HCP was similar to that applied to acute intermittent porphyria or VP: carbohydrates (acute attack: 330 - 500 g/day; light attacks: 20 - 40 g/day), vitamine B complex and folic acid (30 mg/day). When HCP patients also showed cutaneous symptoms, oral S-adenosyl-L-methionine (12 mg/kg/ day) for 3 weeks was given.
Registro:
| Documento: | Artículo |
| Título: | Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares |
| Autor: | Stella, A.M.; Melito, V.E.; Melito, V.A.; Noriega, G.; Muramatsu, H.; Tomassi, L.; Magnin, P.H.; Del Batlle, A.M.C. |
| Filiación: | Ctro. Invest. Sobre Porfirinas/P., Fac. de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina Clínica Médica, División B, Hosp. Munic. de Agudos J.M. Ramos M. Facultad de Medicina, Universidad de Buenos Aires, Argentina Depto. de Quim. Biológica, Fac. de Ciencias Exactas y Naturales, Universidad de Buenos Aires (UBA), Argentina Depto. de Quim. Biológica, FCEyN, UBA, Argentina FCEyN, UBA, Argentina Medico Div. B Clin. Medica, Hosp. Munic. de Agudos J.M. Ramos M. Medico de la Div. B Clin. Medica, Hosp. Munic. Agudos J. M. R.M. Facultad de Medicina, UBA, Argentina |
| Palabras clave: | aminolevulinic acid; coproporphyrin; folic acid; fructose; glucose; porphobilinogen; porphyrin; s adenosylmethionine; vitamin b complex; adult; article; carbohydrate intake; clinical article; differential diagnosis; familial disease; female; human; hyperpigmentation; male; oral drug administration; photosensitivity; porphyria; porphyria cutanea tarda; porphyria variegata; relative; remission |
| Año: | 1998 |
| Volumen: | 79 |
| Número: | 3 |
| Página de inicio: | 144 |
| Página de fin: | 152 |
| Título revista: | Revista Argentina de Dermatologia |
| Título revista abreviado: | Rev. Argent. Dermatol. |
| ISSN: | 03252787 |
| CODEN: | RADEB |
| CAS: | aminolevulinic acid, 106-60-5; coproporphyrin, 27121-71-7; folic acid, 59-30-3, 6484-89-5; fructose, 30237-26-4, 57-48-7, 7660-25-5, 77907-44-9; glucose, 50-99-7, 84778-64-3; porphobilinogen, 487-90-1; porphyrin, 24869-67-8; s adenosylmethionine, 29908-03-0, 485-80-3 |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella |
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- Dobriner, K., Simultaneous excretionn of coproporhyrin I and III in a case of chronic porphyria (1936) Proc. Soc. Biol. Med., 35, pp. 175-177
- Watson, C.J., Schwartz, S., Schulze, W., Jacobson, L.O., Zagaria, R., Studies of coproporphyrin III. Idiopathic coproporphyrinuria; a hitherto unrecognized form characterized by lack of symptoms in spite of the excretion nof large amounts of coproporphyrin (1949) J. Clin Invest, 28, pp. 465-468
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- Atsmon, A., Blum, Y., Fischi, J., Treatment of an acute attack of porphyria variegate with propanolol, s (1972) Afric. Med. J., 46, pp. 311-319
- Stein, J.A., Tschudy, D.P., Acute intermittent porphyria: A clinical and biochemical study of 46 patients (1970) Medicine, 49, pp. 1-16
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- Parera, V., (1985) Desórdenes en el Metabolismo del Hemo. Estudios Sobre el Carácter Hereditario de la Porfiria Cutánea Tarda y la Porfiria Aguda Intermitente, , Tesis doctoral, Universidad de Buenos Aires
- Parera, V., Stella, A.M., Melito, V., Magnin, P., Batlle, A.M.D.C., Porfiria variegata (PV). Tratamiento exitoso de los síntomas agudos y cutáneos en pacientes con porfiria variegata (1994) Rev. Argent. Dermatol., 75, pp. 66-72
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Citas:
---------- APA ----------
Stella, A.M., Melito, V.E., Melito, V.A., Noriega, G., Muramatsu, H., Tomassi, L., Magnin, P.H.,..., Del Batlle, A.M.C. (1998) . Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares. Revista Argentina de Dermatologia, 79(3), 144-152.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella [ ]
---------- CHICAGO ----------
Stella, A.M., Melito, V.E., Melito, V.A., Noriega, G., Muramatsu, H., Tomassi, L., et al. "Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares" . Revista Argentina de Dermatologia 79, no. 3 (1998) : 144-152.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella [ ]
---------- MLA ----------
Stella, A.M., Melito, V.E., Melito, V.A., Noriega, G., Muramatsu, H., Tomassi, L., et al. "Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares" . Revista Argentina de Dermatologia, vol. 79, no. 3, 1998, pp. 144-152.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella [ ]
---------- VANCOUVER ----------
Stella, A.M., Melito, V.E., Melito, V.A., Noriega, G., Muramatsu, H., Tomassi, L., et al. Coproporfiria hereditaria. Estudios bioquimicos en 7 pacientes sintomaticos y familiares. Rev. Argent. Dermatol. 1998;79(3):144-152.Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252787_v79_n3_p144_Stella [ ]
