Non frequent Porphyrias in the Argentinean population
The Porphyrias are a group of diseases resulting from partial deficiencies in one of the heme biosynthetic enzymes. These disorders can be classified on the basis of their clinical manifestations or according the organ where the metabolic deficiency is mainly expressed. In general this enzyme defici...
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| Formato: | Capítulo de libro |
| Lenguaje: | Español |
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2006
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| Acceso en línea: | Registro en Scopus Handle Registro en la Biblioteca Digital |
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| 001 | PAPER-6942 | ||
| 003 | AR-BaUEN | ||
| 005 | 20230518203640.0 | ||
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| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
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| 100 | 1 | |a Melito, V.A. | |
| 245 | 1 | 0 | |a Non frequent Porphyrias in the Argentinean population |
| 260 | |c 2006 | ||
| 270 | 1 | 0 | |m Melito, V.A.; FCEyN, UBAArgentina |
| 506 | |2 openaire |e Política editorial | ||
| 504 | |a Batlle AM del C. Porfirias Humanas. Signos y Tratamientos. En: Porfirias y Porfirinas. Aspectos clínicos, bioquímicos y biología molecular. Actualizaciones Médico Bioquímicas. Ediciones Federación Bioquímica de la Provincia de Buenos Aires. Acta Bioquím Latinoamer 1997; 37-82Anderson, K.E., Sassa, S., Bishop, D.F., Desnick, R.J., Disorders of heme biosynthesis. X-linked sideroblastic anemia and the porphyrias (2000) The Metabolic and Molecular Bases of Inherited Diseases, pp. 2961-3062. , Scriver CR, Beaudet AL, Sly WS, Valle D Editores, 8th Edición. New York: McGraw-Hill | ||
| 504 | |a Elder, G.H., Hepatic Porphyrias in children (1997) J Inherit Metab Dis, 20, pp. 237-246 | ||
| 504 | |a Kauppinen, R., Porphyrias (2005) Lancet, 365, pp. 241-252 | ||
| 504 | |a Barclay, N., Acute intermittent porphyria in childhood: A negleted diagnosis? (1974) Arch Dis Child, 49, pp. 404-405 | ||
| 504 | |a Beauvais, P., Klein, M.L., Denave, L., Porphyria ague intermittente a l'age de quatre mois. (1976) Aped, 33, pp. 987-992 | ||
| 504 | |a Picat, C., Delfau, M., De Rooij, F.W., Beukeveld, G.J., Wolthers, B.G., Wadman, S.K., Nordmann, Y., Grandchamp, B., Identification of the mutation in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria (1990) J Inherit Metab Dis, 13, pp. 684-686 | ||
| 504 | |a Llewellyn, D.H., Smith, S.J., Elder, G.H., Hutchesson, A.C., Rattenbury, J.M., Smith, M.F., Homozygous acute intermittent porphyria: Compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogenase gene (1992) Hum Genet, 89, pp. 97-98 | ||
| 504 | |a Xu, W., Solís, C., Bermejo, A.M., Desnick, R.J., Clinical and molecular delineation of severe homozygous dominant acute intermittent porphyria (1995) Pediatr Res, A155, p. 916 | ||
| 504 | |a Solis, C., Martínez-Bermejo, A., Naidich, T.P., Kaufmann, W.E., Astrin, K.H., Bishop, D.F., Desnick, R.J., Acute intermittent porphyria: Studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias (2004) Arch Neurol, 61, pp. 1764-1770 | ||
| 504 | |a Hessels, J., Voortman, G., Van der Wagen, A., Van der Elzen, C., Scheffer, H., Zudderhoudt, J., Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors (2004) J Inherit Metab Dis, 27, pp. 19-27 | ||
| 504 | |a Hift RJ, Meissner PN, Todd G, Kirby P, Bilsland D, Collins P, Ferguson y Moore MR. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J 1993; 69: 781-786Frank, J., McGrath, J., Lam, H., Graham, R.M., Hawk, J.L.M., Christiano, A.M., Homozygous variegate porphyria: Identification of mutations on both alleles of the protoporphyrinogen oxidase gene in severely affected probands (1998) J Invest Dermatol, 110, pp. 452-455 | ||
| 504 | |a Roberts, A.G., Puy, H., Dailey, T.A., Molecular characterization of homozygous variegate porphyria (1998) Hum Mol Genet, 7, pp. 1921-1925 | ||
| 504 | |a Corrigall, A.V., Hift, R.J., Davids, L.M., Hancock, V., Meissner, D., Kirsch, R.E., Meissner, P.N., Homozygous Variegate Porphyria in South Africa: Genotypic Analysis in Two Cases (2000) Mol Genet Metab, 69, pp. 323-330 | ||
| 504 | |a Kauppinen, R., Timonen, K., von und zu Fraunberg, M., Laitinene, E., Ahola, H., Tenhunen, R., Taketani, S., Mustajoki, P., Homozygous variegate Porphyria: 20 y follow-up and characterization of molecular defect (2001) J Invest Dermatol, 116, pp. 610-613 | ||
| 504 | |a Palmer, R.A., Elder, G.H., Barrett, D.F., Keohane, S.G., Homozygous variegate Porphyria: A compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene (2001) Br J Dermatol, 144, pp. 866-869 | ||
| 504 | |a Poblete-Gutiérrez, P., Wolff, C., Farías, R., Frank, J.A., Chilean boy with severe photosensitivity and finger shortening: The first case of homozygous variegate porphyria in South America (2006) Br J Dermatol, 154, pp. 368-371 | ||
| 504 | |a De Vernuil, H., Atiken, G., Nordmann, Y., Familial and sporadic porphyria cutanea tarda: Two different diseases (1978) Hum Genet, 44, pp. 135-151 | ||
| 504 | |a Elder, G.H., Sheppard, D.M., Enriquez de Salamanca, R., Olmos, A., Identification of two types of porphyria cuatnea tarda by measurement of erythrocyte uroporphyrinogen de carboxylase: An exception to the rule? (1989) Dermatologica, 178, pp. 206-208 | ||
| 504 | |a D'Alessandro, G.L., Grisso, D., Macri, A., Biolcati, G., Topi, G.C., Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: An exception to the rule? (1989) Dermatologica, 178, pp. 206-208 | ||
| 504 | |a Méndez, M., Rossetti, M.V., Batlle, AM del, C., Parera, V.E., The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population (2005) J Am Acad Dermatol, 52, pp. 417-424 | ||
| 504 | |a Melito, V.A., Parera, V.E., Rossetti, M.V., Batlle, A., Manifestación de porfiria cutánea tardía en pacientes infectados con el virus de la inmunodeficiencia humana. (2006) Acta Bioquím Clin Latinoam, 40, pp. 29-34 | ||
| 504 | |a Sarkany, R., Cox, T., Autosomal recessive erythropoietic protoporphyria: A syndrome of severe photosensitivity and liver failure (1995) Q J Med, 88, pp. 541-549 | ||
| 504 | |a Whatley, S.D., Mason, N.G., Khan, M., Zamiri, M., Badminton, M.N., Missaoui, W.N., Dailey, T.A., Elder, G.H., Autosomal recessive erythropoietic protoporphyria in the United Kingdom: Prevalence and relationship to liver disease (2004) J Med Genet, 41, p. 105 | ||
| 504 | |a Gouya, L., Martin-Schmitt, C., Robreau, A.M., Austerlitz, F., Da Silva, V., Brun, P., Simonin, S., Deybach, J.C., Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria (2006) Am J Hum Genet, 78, pp. 2-14 | ||
| 504 | |a Kontos, A.P., Ozog, D., Bichakjian, C., Lim, H.W., Congenital erythropoietic porphyria associated with myelodisplasia presenting in a 72-year-old: Report of a case and review of the literature (2003) Br J Dermatol, 148, pp. 160-164 | ||
| 504 | |a Batlle AM del C. El Laboratorio de las Porfirias, en Porfirias y Porfirinas. Aspectos clínicos, bioquímicos y biología molecular. Actualizaciones Médico Bioquímicas. Ediciones Federación Bioquímica de la Provincia de Buenos Aires. Acta Bioquím Latinoamer 1997; 145-171Afonso, S.G., Chinarro, S., Stella, A.M., Lenczner, J.M., Batlle, AM del, C., Magnin, P.H., Uroporfirinógeno decarboxilasa eritrocitaria y hepática en Porfiria Cutánea Tardía. (1985) Rev Argent Dermatol, 66, pp. 12-23 | ||
| 504 | |a Tsai, S.F., Bishop, D.F., Desnick, R.J., Purification and properties of uroporphyrinogen III synthase from human erythrocytes (1987) J Biol Chem, 262, pp. 1268-1273 | ||
| 504 | |a Lim, C.K., Rideout, J.M., Wright, D.J., High-performance liquid chromatography of naturally occurring 8-, 7-, 6-, 5- and 4-carboxylic porphyrin isomers (1983) J Chromatogr, 282, pp. 629-641 | ||
| 504 | |a Parera, V.E., De Siervi, A., Varela, L.S., Rossetti, M.V., Batlle, A., Acute Porphyrias in the Argentinean population. A review (2003) Cell Mol Biol, 49, pp. 493-500 | ||
| 504 | |a Poh-Fitzpatrick, M.B., Wang, X., Anderson, K.E., Bloomer, J.R., Bolwell, B., Lichin, A.E., Erythropoietic protoporphyria: Altered phenotype after bone narrow transplantation for myelogeneous leukemia in a patient heteroallelic for ferrochelatase gene mutations (2002) J Am Acad Dermatol, 46, pp. 861-866 | ||
| 504 | |a Andersson, C., Lithner, F., Hypertension and renal disease in patients with acute intermittent porphyria (1994) J Intern Med, 236, pp. 169-175 | ||
| 504 | |a Andersson, C., Wikbergh, B., Stegmayr, B., Lithner, F., Renal symptomatology in patients with acute intermittent porphyria. A population-based study (2000) J Int Med, 248, pp. 319-325 | ||
| 504 | |a Batlle, AM del, C., Stella, A.M., Kaminsky, A.R., Kaminsky, C., Guzmán, H., Two cases of infantil Porphyria Cutanea Tarda. Succesful treatment with oral S-Adenosyl-L-Methionine and low dose of oral chloroquine (1987) Br J Dermatol, 116, pp. 407-415 | ||
| 520 | 3 | |a The Porphyrias are a group of diseases resulting from partial deficiencies in one of the heme biosynthetic enzymes. These disorders can be classified on the basis of their clinical manifestations or according the organ where the metabolic deficiency is mainly expressed. In general this enzyme deficiency is associated with mutations in the genes which codify each enzyme. There are 7 types of Porphyrias. They are autosomal dominant disorders with the exception of PCE, PHE and NPA which are recessive. However, some rare and severe cases with recessive inheritance have also been reported. The description of these infrequent cases and their treatments and evolution would make easier the differential diagnosis of Porphyrias as well as the therapeutic possibilities to be applied in each case. Moreover, it is very important the early identification and treatment of infantile heterozygous porphyrias to avoid the risks of associatedd complications. In the CIPYP we have diagnosed 5 cases of infantil Acute Porphyrias: 2 PAI, 2 PV and 1 CPH. In the group of Cutaneous Porphyrias we present 25 cases of infantil PCT, the first case of PHE in Argentina, 4 cases of infantil PCE and 1 adult PCE and 2 cases of PPE with hepatic failure. |l eng | |
| 593 | |a FCEyN, UBA | ||
| 593 | |a CONICET | ||
| 593 | |a CIPYP | ||
| 593 | |a Centro de Investigaciones Sobre Porfirinas Y Porfirias (CIPYP), CONICET, Hospital de Clínicas José de San Martín | ||
| 690 | 1 | 0 | |a ACUTE PORPHYRIAS |
| 690 | 1 | 0 | |a CUTANEOUS PORPHYRIES |
| 690 | 1 | 0 | |a ENZYMES |
| 690 | 1 | 0 | |a HEAM |
| 690 | 1 | 0 | |a PORPHYRIAS |
| 690 | 1 | 0 | |a CEFALEXIN |
| 690 | 1 | 0 | |a CEFTRIAXONE |
| 690 | 1 | 0 | |a GENTAMICIN |
| 690 | 1 | 0 | |a PHENOBARBITAL |
| 690 | 1 | 0 | |a VALPROIC ACID |
| 690 | 1 | 0 | |a ADOLESCENT |
| 690 | 1 | 0 | |a ADULT |
| 690 | 1 | 0 | |a ARTICLE |
| 690 | 1 | 0 | |a AUTOSOMAL DOMINANT DISORDER |
| 690 | 1 | 0 | |a CHILD |
| 690 | 1 | 0 | |a CLINICAL ARTICLE |
| 690 | 1 | 0 | |a CONTROLLED STUDY |
| 690 | 1 | 0 | |a COPROPORPHYRIA |
| 690 | 1 | 0 | |a DIFFERENTIAL DIAGNOSIS |
| 690 | 1 | 0 | |a DISEASE SEVERITY |
| 690 | 1 | 0 | |a ENZYME DEFICIENCY |
| 690 | 1 | 0 | |a ERYTHROPOIETIC PROTOPORPHYRIA |
| 690 | 1 | 0 | |a GENE MUTATION |
| 690 | 1 | 0 | |a HUMAN |
| 690 | 1 | 0 | |a PORPHYRIA |
| 690 | 1 | 0 | |a PORPHYRIA CUTANEA TARDA |
| 690 | 1 | 0 | |a RISK FACTOR |
| 700 | 1 | |a Rossetti, M.V. | |
| 700 | 1 | |a Parera, V.E. | |
| 700 | 1 | |a Batlle, A. | |
| 773 | 0 | |d 2006 |g v. 87 |h pp. 248-263 |k n. 4 |p Rev. Argent. Dermatol. |x 03252787 |t Revista Argentina de Dermatologia | |
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