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Über eine seltene Form des Glucose-6-phosphatdehydrogenase-Mangels mit kongenitaler nichtsphärocytärer hämolytischer Anämie

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Zusammenfassung

Die meisten Personen mit G6PD-Mangel der Erythrocyten erkranken nur nach Einnahme von Medikamenten oder nach dem Genuß von Favabohnen an einer hämolytischen Anämie. Der hier beschriebene hemizygote Patient mit G6PD-Mangel leidet seit der Geburt an einer schweren hämolytischen Anämie. Bei fieberhaften Infekten kommt es zu einer Verstärkung der Hämolyse. Die G6PD-Aktivität in den Patientenerythrocyten beträgt 5% der Aktivität homozygot gesunder Personen. Das Enzym ist eine Variante der normalen G6PD. Seine Affinität zu Glucose-6-phosphat ist um den Faktor 10 vermindert, während die Affinität des Enzyms zu NADP normal ist. Diese Variante der G6PD wurde bisher noch nicht beschrieben.

Die Enzymaktivität in den Erythrocyten der heterozygoten Mutter des Patienten beträgt 57% der Aktivität homozygot Gesunder. Die gesunde Mutter hat eine Reticulocytose von etwa 60‰.

Untersuchungen mit51Cr-markierten Erythrocyten zeigen, daß die Zellen gleich stark in Leber und Milz abgebaut werden.

Summary

Most individuals with G6PD defieciency of the erythrocytes develop hemolytic anemia only after taking drugs or fava beans. The studied patient is a hemizygous carrier of the gene defect. Since birth he suffers from a severe nonspherocytic hemolytic anemia. Hemolysis is enhanced by infections.

The activity of the G6PD in the erythrocytes of the patient is diminished to 5 percent of the activity of normal persons. The G6PD of the patient is a variant of the normal enzyme. The affinity of the enzyme to glucose-6-phosphate is depressed by a factor of ten whereas the affinity to NADP is within the normal range. This type of G6PD has not been described til now.

The erythrocytes of the heterozygous mother of the patient exhibit an enzyme activity of 57 percent of the activity of normal homozygous persons. The reticulocyte counts of the healthy mother are elevated to about 6 percent.

Studies with51Cr-tagged erythrocytes of the patient indicate that liver and spleen are the mean sites of red cell sequestration. There is no difference of body surface activity between these two organs.

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Literatur

  1. Ben-Ishay, D., andG. Izak: Chronic hemolysis associated with glucose-6-phosphate dehydrogenase deficiency. J. Lab. clin. Med.63, 1002–1009 (1964).

    Google Scholar 

  2. Bernard, J., J. Tanzer, Y. Najean, J. Moulinier, C. Scialom, J. F. Levy etM. Petrover: La forme chronique de l'anemia hémolytique héréditaire par insufficiance en glucose-6-phosphate déshydrogénase. Observations preliminaires sur une famille français. Nouv. Rev. franç. Hémat.3, 465–475 (1963).

    Google Scholar 

  3. Beutler, E.: The hemolytic effect of primaquine and related compounds: a review. Blood14, 103–139 (1959).

    Google Scholar 

  4. Beutler, E., R. J. Dern, andS. Alving: The hemolytic effect of primaquine. VI. An in vitro test for sensitivity of erythrocytes to primaquine. J. Lab. clin. Med.45, 40–50 (1955).

    Google Scholar 

  5. Blackburn, E. K., andJ. Lorber: Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency. Proc. roy. Soc. Med.56, 505 (1963).

    Google Scholar 

  6. Bousser, J., D. Christol, P. Boivin, R. Mallassenet etJ. C. Lods: Ictère hémolytique congénital non spherocytaire avec déficit en glucose-6-phosphate déhydrogenase. Nouv. Rev. franç. Hémat.3, 505–511 (1963).

    Google Scholar 

  7. Dreyfus, J. C., N. Malekma etJ. C. Kaplan: Recherches sur le déficit en glucose-6-phosphate deshydrogenase en france. Apropos de 200 dosages. Nouv. Rev. franç. Hémat.4, 791–802 (1964).

    Google Scholar 

  8. Escobar, M. A., P. Heller, andF. E. Trobaugh jr.: “Complete” erythrocyte glucose-6-phosphate dehydrogenase deficiency. Arch. intern. Med.113, 428–434 (1964).

    Google Scholar 

  9. Fornaini, G., G. Leoncini, L. Luzzatto, andG. Segni: Glucose metabolism in human erythrocytes from normal and fava bean-sensitive subjects. J. clin. Invest.41, 1446–1453 (1962).

    Google Scholar 

  10. Gehrmann, G.: Lebensdauer und Abbauort der Erythrocyten bei hämolytischen Anämien. Heidelberg: Dr. Alfred Hütig 1964.

    Google Scholar 

  11. Gross, R. T., R. E. Hurwitz, andP. A. Marks: An hereditary enzymatic defect in erythrocyte metabolism: glucose-6-phosphate dehydrogenase deficiency. J. clin. Invest.37, 1176–1184 (1958).

    Google Scholar 

  12. Hennemann, H. H.: Hämolytische Anämien nach Chemikalien und Drogen. Fortschr. Med.82, 889–892 (1964).

    Google Scholar 

  13. Hennemann, H. H., U. Essers u.G. Stecher: Chronischer, nichtsphärocytärer hämolytischer Ikterus bei völligem Fehlen der Glucose-6-phosphatdehydrogenaseaktivität der Erythrocyten. Klin. Wschr.42, 1250 (1964).

    Google Scholar 

  14. Kirkman, H. N.: Genetic control of human enzymes. Pediat. Clin. North. Amer.10, 299–318 (1963).

    Google Scholar 

  15. Kirkman, H. N., andH. D. Riley: Congenital nonspherocytic hemolytic anemia. Amer. J. Dis. Child.102, 313 (1961).

    Google Scholar 

  16. Kirkman, H. N., J. M. Rosenthal, E. R. Simon, P. E. Carson, andA. G. Brinson: “Chicago I” variant of glucose-6-phosphate dehydrogenase in congenital hemolytic disease. J. Lab. clin. Med.63, 715–725 (1964).

    Google Scholar 

  17. Kirkman, H. N., F. Schettini, andB. M. Pickard: Mediterranean variant of glucose-6-phosphate dehydrogenase. J. Lab. clin. Med.63, 726–735 (1964).

    Google Scholar 

  18. Lewis, S. M., L. Szur, andJ. V. Davies: The pattern of erythrocyte destruction in haemolytic anaemia as studied with radioactive chromium. Brit. J. Haemat.6, 122–139 (1960).

    Google Scholar 

  19. Löhr, G. W., u.H. D. Waller: Glucose-6-phosphat-Dehydrogenase. In:H. U. Bergmeyer (Hrsg.), Methoden der enzymatischen Analyse, S. 744–751. Weinheim: Verlag Chemie 1962.

    Google Scholar 

  20. Lyon, M.: Gene action in the X-chromosome of mouse (Mus musculus L.). Nature (Lond.)190, 372–373 (1961).

    Google Scholar 

  21. Marks, P. A.: G6PD deficiency in different population groups. In:E. Goldsmith (ed.), The genetics of migrant and isolate populations, p. 75–82. New York: Williams & Wilkens Co. 1963.

    Google Scholar 

  22. Marks, P. A., J. Banks, andR. T. Gross: Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency. Nature (Lond.)194, 454–456 (1962).

    Google Scholar 

  23. Marks, P. A., andR. T. Gross: Erythrocyte glucose-6-phosphate dehydrogenase deficiency: evidence of differences between Negroes and Caucasians with respect to this genetically determined trait. J. clin. Invest.38, 2253–2262 (1959).

    Google Scholar 

  24. Motulski, A. G., andJ. M. Campbell-Kraut: Population genetics of glucose-6-phosphate dehydrogenase deficiency of the red cell. In:B. S. Blumberg (ed.), Proc. Conf. on genetic polymorphism and geographic variations in diseases, p. 159–191. New York: Grune & Stratton 1961.

    Google Scholar 

  25. Newton, jr. W. A., andJ. C. Bass: Glutathione sensitive chronic nonspherocytic hemolytic anemia. Amer. J. Dis. Child.96, 501–502 (1958).

    Google Scholar 

  26. Nordöy, A., J. Bremer, E. Myhre, andS. Solheim: Studies on glycolyis in hereditary non-spherocytic hemolytic disease. Acta med. scand.172, 67–73 (1962).

    Google Scholar 

  27. Panizon, F., eF. Zachello: Studie di duo casi familiari con anemia emolitica cronica e difetto di glucose-6-fosfato deidrogenasi. Acta paediat. lat. (Reggio Emilia)15, 257 (1962).

    Google Scholar 

  28. Schröter, W.: Kongenitale nichtsphärocytäre hämolytische Anämie mit 2,3-Diphosphoglyceratmutase-Mangel der Erythrocyten im frühen Säuglingsalter. Klin. Wschr.43, 1147–1153 (1965).

    Google Scholar 

  29. Schröter, W.: Die Vererbung congenitaler nichtsphärocytärer hämolytischer Anämien mit Enzymmangel. Vortrag 9. Tagg. Dtsch. Ges. Anthropologie, Freiburg 1965. Homo (Stuttg.) (im Druck).

  30. Schröter, W., u.H. v. Heyden: Kinetik des 2,3-Diphosphoglyceratumsatzes in menschlichen Erythrocyten. Biochem. Z.341, 387–398 (1965).

    Google Scholar 

  31. Schröter, W., u.H. v. Heyden: Erythrocytenenzyme während der Entwicklung. Z. Kinderheilk.94, 263–273 (1965).

    Google Scholar 

  32. Shahidi, N. T., andL. K. Diamond: Enzyme deficiency in erythroeytes in congenital nonspherocytic hemolytic anemia. Pediatrics24, 245–253 (1959).

    Google Scholar 

  33. Shows jr., T. B., R. E. Tashian, G. J. Brewer, andR. J. Dern: Erythrocyte glucose-6-phosphate dehydrogenase in Caucasians: new inherited variant. Science145, 1056–1057 (1964).

    Google Scholar 

  34. Sitzmann, F. C., B. Kornhuber, U. Stephan u.H. Truckenbrodt: Enzymopenische hämolytische Anämie infolge Glucose-6-phosphatdehydrogenasemangel bei einem Kind deutscher Abstammung. Z. Kinderheilk.93, 189–196 (1965).

    Google Scholar 

  35. Szeinberg, A., C. Sheba, andA. Adam: Enzymatic abnormality in erythrocytes of a population sensitive to vicia faba or haemolytic anaemia induced by drugs. Nature (Lond.)181, 1256 (1958).

    Google Scholar 

  36. Tada, K., andH. Mizuno: Demonstration of metabolic anomaly in congenital non spherocytic hemolytic anemia and beneficial effect of vitamin B12. Tokohu J. exp. Med.74, 18–27 (1961).

    Google Scholar 

  37. Veeger, W., M. G. Woldring, J. J. van Rood, J. G. Eernisse, C. H. W. Leeksma, M. C. Verloop, andH. O. Nieweg: The value of the determination of site of red cell sequestration in hemolytic anemia as a prediction test for splenectomy. Acta med. scand.171, 507–520 (1962).

    Google Scholar 

  38. Waller, H. D., G. W. Löhr u.J. Gayer: Hereditäre nichtsphärozytäre hämolytische Anämie durch Glucose-6-Phosphatdehydrogenasemangel. Klin. Wschr.44, 122–128 (1966).

    Google Scholar 

  39. Waller, H. D., G. W. Löhr u.M. Tabatai: Hämolyse und Fehlen von Glucose-6-phosphatdehydrogenase in roten Blutzellen. (Eine Fermentanomalie der Erythrocyten.) Klin. Wschr.35, 1022–1027 (1957).

    Google Scholar 

  40. Zinkham, W. H.: Metabolism of glucose by erythrocytes from patients with congenital hemolytic disorders. J. Pediat.60, 614–621 (1962).

    Google Scholar 

  41. Zinkham, W. H., andR. E. Lenhard: Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia. J. Pediat.55, 319–336 (1959).

    Google Scholar 

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Authors and Affiliations

  1. Universitäts-Kinderkliniken Hamburg and Kiel, Germany

    W. Schröter, J. Drescher & K. Fischer

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  1. W. Schröter
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Schröter, W., Drescher, J. & Fischer, K. Über eine seltene Form des Glucose-6-phosphatdehydrogenase-Mangels mit kongenitaler nichtsphärocytärer hämolytischer Anämie. Klin Wochenschr 45, 355–362 (1967). https://doi.org/10.1007/BF01738743

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