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Abstract:

1. 1. A family investigation was performed in eleven cases of Porphyria Cutanea Tarda (PCT). 2. 2. By using clinical findings, quantitative measurements and thin layer chromatography (TLC) of urinary porphyrins, overt and subclinical PCT patients have been identified. 3. 3. In the overt type, skin manifestations are present, excretion of urinary porphyrins is increased and the TLC pattern of porphyrins in urine is characteristic for PCT. 4. 4. In the subclinical type, patients have no clinical symptoms, excretion of porphyrins in urine might be normal or enhanced and TLC pattern of urinary porphyrins is typical for PCT. 5. 5. By applying these criteria a clear distinction between hereditary and non-hereditary PCT was possible. 6. 6. Among the 11 families studied, in four families where PCT was hereditary, four members have the overt type and ten relatives the subclinical type. 7. 7. In seven families where PCT was non-hereditary only the propositus has overt PCT and not a single relative showed any clinical or biochemical abnormality. © 1980.

Registro:

Documento: Artículo
Título:Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda
Autor:Magnin, P.H.; de Xifra, E.A.W.; Lenczner, M.; Stella, A.M.; del C. Batlle, A.M.
Filiación:Centro de Investigaciones sobre Porfirinas y Porfirias, CIPYP, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires y Consejo Nacional de Investigaciones Cientificas y Técnicas, CONICET, Ciudad Universitaria, Pabellon II, 4to Piso,N'unez, 1428 Buenos Aires and Servicio de la Cátedra de Dermatología, Facultad de Medicina, Universidad de Buenos Aires, Hospital Ramos Mejía, Urquiza 609, 1221 Buenos Aires, Argentina
Palabras clave:porphyrin; acute disease; adolescent; adult; article; child; chronic disease; female; genetics; human; male; pedigree; porphyria; preschool child; skin disease; thin layer chromatography; urine; Acute Disease; Adolescent; Adult; Child; Child, Preschool; Chromatography, Thin Layer; Chronic Disease; Female; Human; Male; Middle Age; Pedigree; Porphyria; Porphyrins; Skin Diseases; Support, Non-U.S. Gov't
Año:1980
Volumen:12
Número:5-6
Página de inicio:873
Página de fin:877
DOI: http://dx.doi.org/10.1016/0020-711X(80)90177-9
Título revista:International Journal of Biochemistry
Título revista abreviado:Int. J. Biochem.
ISSN:0020711X
CODEN:IJBOB
CAS:porphyrin, 24869-67-8; Porphyrins
PDF:https://bibliotecadigital.exactas.uba.ar/download/paper/paper_0020711X_v12_n5-6_p873_Magnin.pdf
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_0020711X_v12_n5-6_p873_Magnin

Referencias:

  • Batlle A.M. del, Wider de Xifra, Stella, Rossetti, Magnin, Molinet, Lenczner, Control bioquimico del tratamiento alcalinizante en la Porfiria Cutanea Tardia (1979) Rev. Arg. Derm., , in press
  • Benedetto, James, Kushner, Taylor, Porphyria Cutanea Tarda in three generations of a single family (1978) N. Engt. J. Med., 298, pp. 358-362
  • Blekkenhorst, Pimpstone, Eales, Porphyria Cutanea Tarda in South Africa: metabolic basis of disordered haem biosynthesis (1976) Porphyrins in Human Diseases, pp. 299-311. , M. Doss, Karger, Basel
  • Dehlin, Enerback, Lundvall, Porphyria Cutanea Tarda: a genetic disease? A biochemical and fluorescence microscopical study in four families (1973) Acta med. Scand., 194, pp. 265-270
  • Doss, Look, Henning, Luders, Dolle, Strohmeyer, Chronische hepatische porphyrien (1971) Z. Klin. Chem. Klin. Biochem., 9, pp. 471-477
  • Elder, Lee, Tovey, Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda (1978) N. Engl. J. Med., 299, pp. 274-278
  • Felsher, Norris, Shih, Red cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria (1978) N. Engl. J. Med., 299, pp. 1095-1098
  • Kushner, Steinmuller, Lee, The role of iron in the pathogenesis of porphyria cutanea tarda II. Inhibition of uroporphyrinogen decarboxylase (1975) J. clin. Invest., 56, pp. 661-667
  • Kushner, Barbutto, Lee, An inherited enzymic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity (1976) J. clin. Invest., 58, pp. 1089-1097
  • McEwin, The inheritance of porphyria cutanea tarda (1973) Med. J. Aust., 2, pp. 398-399
  • Mauzerall, Granick, The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine (1956) J. biol. Chem., 219, pp. 435-446
  • Perrot, Thivolet, Le rôle de l'hérédité dans la porphyrie cutanée tardive dite acquise (1970) Ann. Dermat. Syphiligr., Paris, 97, pp. 5-14
  • Pn̄ol-Aguadé, Herrero, Almeida, Smith, Belcher, Thin layer chromatography and counter current analysis in Porphyria (1975) British Journal of Dermatology, 93, pp. 277-289
  • Prato, Mazza, Battistini, Massaro, L'ereditarieta della porfiria cutanea tarda sintomatica (1974) Minerva Med., 65, pp. 3599-3613
  • Rimington, Quantitative determination of porphobilinogen and porphyrins in urine and porphyrins in feces and erythrocytes (1971) Broadsheet N 70. Association of Clinical Pathologist, , London
  • Topi, D'alessandro, Inheritance of Porphyria Cutanea Tarda (1977) Br. J. Dermal., 97, pp. 617-627
  • Verneuil H. De Nordmann, Phung, Grandchamp, Aitken, Grelier, Noire, Familial and sporadic porphyria cutanea: two different diseases (1978) Int. J. Biochem., 9, pp. 927-932
  • Waldenström, Haeger-Aronsen, Different patterns of human porphyria (1967) BMJ, 2, pp. 272-276
  • Wider De Xifra, Stella, Juknat, Batlle A.M. Del, Magnin, Castellanos Pose, Aplicación de la cromatografía en capa delgada en el estudio de la herencia en Porfiria Cutánea Tardía (1979) Rev. Arg. Derm., 60, pp. 226-231
  • With, Clinical use of porphyrin ester chromatography in urine and feces (1975) Dan. Med. Bull., 22, pp. 74-80
  • With, A simplified system of clinical porphyrin analysis of urine and feces based on TLC (1976) Porphyrins in Human Disease, pp. 492-499. , M. Doss, Karger, Basel

Citas:

---------- APA ----------
Magnin, P.H., de Xifra, E.A.W., Lenczner, M., Stella, A.M. & del C. Batlle, A.M. (1980) . Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda. International Journal of Biochemistry, 12(5-6), 873-877.
http://dx.doi.org/10.1016/0020-711X(80)90177-9
---------- CHICAGO ----------
Magnin, P.H., de Xifra, E.A.W., Lenczner, M., Stella, A.M., del C. Batlle, A.M. "Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda" . International Journal of Biochemistry 12, no. 5-6 (1980) : 873-877.
http://dx.doi.org/10.1016/0020-711X(80)90177-9
---------- MLA ----------
Magnin, P.H., de Xifra, E.A.W., Lenczner, M., Stella, A.M., del C. Batlle, A.M. "Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda" . International Journal of Biochemistry, vol. 12, no. 5-6, 1980, pp. 873-877.
http://dx.doi.org/10.1016/0020-711X(80)90177-9
---------- VANCOUVER ----------
Magnin, P.H., de Xifra, E.A.W., Lenczner, M., Stella, A.M., del C. Batlle, A.M. Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda. Int. J. Biochem. 1980;12(5-6):873-877.
http://dx.doi.org/10.1016/0020-711X(80)90177-9