Advertisement

Congenital porphyria in siblings

With a brief review of congenital and hereditary porphyrias
  • Amala Chaudhuri
  • J. Nag Chaudhuri
  • K. C. Chaudhuri
Article

Summary

  1. 1.

    A brief review of porphyria has been given.

     
  2. 2.

    Full clinical details of two cases of congenital porphyria occurring in male siblings are presented.

     
  3. 3.

    Studies on the urinary porphyrins in one sibling (A.S.C.) using paper chromatography and paper electrophoretic techniques have been carried out.

     
  4. 4.

    The presence in the urine of uro-and copro-porphyrins as well as two other porphyrins with five, six or seven carboxylic groups have been revealed by such studies.

     
  5. 5.

    Separation and identification of the esters will be described at a later date.

     

Keywords

Porphyrin Porphyria Epidermolysis Bullosa Hypertrichosis Porphobilinogen 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Aldrich, R. A. V., Hawkinson, V., Grinstein, M., andWatson, C. J.—Photosensitive or congenital porphyria with hemolytic anaemia.Blood,6: 685, 1951.PubMedGoogle Scholar
  2. 2.
    Carnivet, J., andRimington, C.—A chromatographic study of uroporphyrins from cases of cutaneous, acute and congenital porphyria.Biochem. J.,55: 867, 1953.Google Scholar
  3. 3.
    Chu, T. C., Green, A. A., andChu, E. J.—Paper chromatography of methyl esters of of porphyrins.J. Biol. Chem.,190: 643, 1951.PubMedGoogle Scholar
  4. 4.
    Dean, G., andBarnes, H. D.—Porphyria.Brit. Med. J., Feb. 8, 298, 1958.CrossRefGoogle Scholar
  5. 5.
    Discombe, G. andTreip, C. S.—Cutaneous manifestations of porphyria.Brit. Med. J., Nov. 21, 1134, 1953.Google Scholar
  6. 6.
    Dunsky, I., Freeman, S. andGibson, S.—Porphyria and porphyrinuria.Amer. J. Dis. Child.,74: 305, 1947.Google Scholar
  7. 7.
    Ericksen, L.Scand. J. Clin. Lab. Invest.,5: 155, 1953. Quoted byFalk in Biochem. Soc. Symp. on Chemical Pathology of Animal Pigments.CrossRefGoogle Scholar
  8. 8.
    Falk, J. E.—Patterns of porphyrin excretion in Biochem. Soc. Symp. on Chemical Pathology of Animal Pigments, No. 12, p. 17.Cambridge Univ. Press, 1954.Google Scholar
  9. 9.
    Falk, J. E., andBenson, A.—Separation of uro-porphyrin esters I and III by paper chromatography.Biochem. J.,55: 101, 1953.PubMedGoogle Scholar
  10. 10.
    Falk, J. E., andWillis, J. B.Aust. J. Sci. Res.,4: 579, 1951.Google Scholar
  11. 11.
    Findlay, G. H. andBarnes H. D.—Congenital porphyria, hydroa acstivale and hypertrichosis in a South African Bantu.Lancet,2: 846, 1950.PubMedCrossRefGoogle Scholar
  12. 12.
    Goadby, H. K.—Porphyria.Med. Annu., p. 232.Wright,Bristol, 1955.Google Scholar
  13. 13.
    Gray, C. H., andNeuberger, A.Lancet,1: 851, 1952, quoted byLedingham, U.,Med. Annu.,8: 336,Wright,Bristol, 1953.PubMedCrossRefGoogle Scholar
  14. 14.
    Grinstein, M., Watson, C. J., andSchwartz, S.—Studies of the uroporphyrins. The purification of uro-porphyrin I and the nature of “Waldenström Uroporphyrin” as isolated from porphyria material.J. Biol. Chem.,157: 323, 1945.Google Scholar
  15. 15.
    Guenther, H.Dtsch. Arch. Klin. Med., 105: 89, 1912, quoted byVannotti.Google Scholar
  16. 16.
    Jope, E. M. andO'Brien, J. R. P.—Spectral absorption and fluorescence of coproporphyrin isomers I and III and the melting points of their methyl esters.Biochem. J.,39: 239, 1945.PubMedGoogle Scholar
  17. 17.
    Kennard, O. andRimington, C.—Identification and classification of some porphyrins on the basis of their X-ray diffraction patterns.Biochem. J.,55: 105, 1953.PubMedGoogle Scholar
  18. 18.
    Kitagawa, K.—Über Hämatoporphyria congenita “Hans Günther” und ihre experimentalle Utersuchung.,Jap. J. Dermat. Urol.,27: 43, 1927 quoted byStich.Google Scholar
  19. 19.
    Matsuoka, K.—Über Haematoporphyria congenita.—Jap. J. Dermat. Urol.,28: 38, 1926 quoted byStich.Google Scholar
  20. 20.
    Muir, Helen, M.—Normal and pathological metabolism of porphyrins in Biochem. Soc. Symp. on the Chemical Pathology of Animal Pigments, No. 12, p. 4,Cambridge Univ. Press, 1954.Google Scholar
  21. 21.
    Nicholas, R. E. M.—Chromatographic methods for the separation and identification of porphyrins.Biochem. J.,48: 309, 1951.PubMedGoogle Scholar
  22. 22.
    Nicholas, R. E. M., andRimington, C.—Qualitative analysis of the porphyrins by partition chromatography.Scand. J. Clin. Lab. Invest.,1: 12, 1949.PubMedCrossRefGoogle Scholar
  23. 23.
    Nicholas, R. E. M., andRimington, C.—Paper chromatography of porphyrins: Some hitherto unrecognised porphyrins and further notes on the method.Biochem. J.,48: 306, 1951.PubMedGoogle Scholar
  24. 24.
    Nicholas, R. E. M. andRimington, C.—Studies on the “Waldenström porphyria of acute porphyria urines.Biochem. J.,55: 109, 1953.PubMedGoogle Scholar
  25. 25.
    Prunty, F. I. G.—Porphyria. Med. Annu., p. 291.Wright,Bristol, 1952.Google Scholar
  26. 26.
    Ranking, J. E. andPardington, S. L.—Two cases of haematoporphyrin in the urine.Lancet,2: 607, 1890, quoted byVannotti.CrossRefGoogle Scholar
  27. 27.
    Rimington, C.—Quantitative method for the determination of uroporphyrins in pathological urines.Biochem. J.,37: 443, 1943.PubMedGoogle Scholar
  28. 28.
    Idem. Rimington, C.—Introduction to Biochem. Soc. Symp. on the Chemical Pathology of Animal Pigments, No. 12, p. 1.Cambridge Univ. Press, 1954.Google Scholar
  29. 29.
    Idem. —Correspondence,Brit. Med. J., March 15, 640, 1958.Google Scholar
  30. 30.
    Rimington, C. andMiles, P. A.—A study of the porphyrins excreted in the urine by a case of congenital porphyria.Biochem. J.,50: 202, 1951.PubMedGoogle Scholar
  31. 31.
    Rimington, C. andSveinsson, S. L.—The spectrophotometric determination of uro-porphyrins.Scand. J. Clin. Lab. Inves.,2: 209, 1950.CrossRefGoogle Scholar
  32. 32.
    Sato, A, andTakahashi, H.—A new form of congenital hematoporphyria.Amer. J. Dis. Child.,32: 325, 1926, quoted byStich.Google Scholar
  33. 33.
    Schmid, R., Schwartz, S. andSundberg, R. D.—Erythropoietic (congenital) porphyria: A rare abnormality of the normoblasts.Blood,10: 416, 1955.PubMedGoogle Scholar
  34. 34.
    Schmid, R., Schwartz, S. andWatson, C. J.—Porphyrin content of bone marrow and liver in the various forms of porphyria.Arch. intern. med.,93: 167, 1954, quoted byStich.Google Scholar
  35. 35.
    Schwartz, S., Hawkinson, V. E., Cohen, S. andWatson, C. J.—A micromethod for the quantitative determination of the urinary coproporphyrin isomers (I & III).,J. Biol. Chem.,168: 133, 1947.Google Scholar
  36. 36.
    Stich, V.—Kongenitale und hereditäre Porphyrien.Mod. Probl. Paedial.,3: 139,S. Karger,Basel, 1957.Google Scholar
  37. 37.
    Taneja, P. N. andSeth, R. K.—Congenital Porphyria.Indian J. Child Hlth.,8: 707, 1956.Google Scholar
  38. 38.
    Vannotti, A.—Porphyrins. Their biological and chemical importance. Trans. byC. Rimington.Hilger and Watts,London, 1954.Google Scholar
  39. 39.
    Waldenstroem, J.Acta med. Scand.,83: 281, 1934, quoted byVannotti.Google Scholar
  40. 40.
    Idem.Waldenstroem, J.Acta. med. Scand., Suppl. 82, 1937, quoted byDean and Barnes.Google Scholar
  41. 41.
    Watson, C. J. andSchwartz, S.—A simple test for urinary porphobilinogen.Proc. Soc. Exp. Biol. Med.,47: 393, 1941.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 1958

Authors and Affiliations

  • Amala Chaudhuri
    • 1
  • J. Nag Chaudhuri
    • 1
  • K. C. Chaudhuri
    • 1
  1. 1.Institute of Child HealthCalcutta

Personalised recommendations