Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation

Blood

Volumn 92, Issue 11, 1998, Pages 4053-4058

  Tezcan, I ^a   Xu, W ^a   Gurgey, A ^a   Tuncer, M ^a   Cetin, M ^a   Oner C ^a   Yetgin, S ^a   Ersoy, F ^a   Aizencang, G ^a   Astrin, K H ^a   Desnick, R J ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEME; PORPHYRIN; UROPORPHYRINOGEN III SYNTHASE;

ALLOGENIC BONE MARROW TRANSPLANTATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD TRANSFUSION; CASE REPORT; CHILD; CONGENITAL ERYTHROPOIETIC PORPHYRIA; FEMALE; GENOTYPE; HEME SYNTHESIS; HUMAN; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; PRIORITY JOURNAL; TREATMENT OUTCOME; URINARY EXCRETION;

EID: 0032402141     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v92.11.4053     Document Type: Article

References (36)

1. Romeo G, Levin E: Uroporphyrinogen III cosynthase in human congenital erythropoietic porphyria. Proc Natl Acad Sci USA 63:856, 1969
2. Kappas A, Sassa S, Galbraith RA, Nordmann Y: The porphyrias, in Scriver CS, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 7). New York, NY, McGraw-Hill, 1995, p 2103
3. McGovern MM, Anderson KE, Astrin KH, Desnick RJ: Inherited porphyrias, in Rimoin DL, Connor JM, Pyeritz RE (eds): Emery and Rimoin's Principles and Practice of Medical Genetics, vol. 2 (ed 3). New York, NY, Churchill-Livingstone, 1996, p 2009
4. Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH: Molecular genetics of congenital erythropoietic porphyria. Semin Liver Dis 18:77, 1998
5. Bickers DR, Ma P: The porphyrias, in Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF (eds): Dermatology in General Medicine. New York, NY, McGraw-Hill, 1987, p 1679
6. Tsai SF, Bishop DF, Desnick RJ: Purification and properties of uroporphyrinogen III synthase from human erythrocytes. J Biol Chem 262:1268, 1987
7. Warner CA, Yoo H-W, Tsai S-F, Roberts AG, Desnick RJ: Congenital erythropoietic porphyria: Characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene. Am J Hum Genet 47:83, 1990
8. Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ: Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3. Hum Genet 87:18, 1991
9. Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C: A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet 4:274, 1996
10. Xu W, Astrin KH, Desnick RJ: Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene. Hum Mutat 7:187, 1996
11. Seip M, Thune PO, Eriksen L: Treatment of phtotsensitivity in congenital erythropoioetic porphyria with β-carotene. Acta Derm Venereol (Stockholm) 54:239, 1974
12. Pimstone NR, Gandhi SN, Mukerji SK: Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria. N Engl J Med 316:390, 1987
13. Piomelli S, Poh-Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE: Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions. N Engl J Med 314:1029, 1986
14. Guarini L, Piomelli S, Poh-Fitzpatrick MB: Hydroxyurea in congenital erythropoietic porphyria. N Engl J Med 330:1091, 1994
15. Kauffman L, Evans DI, Stevens RF, Weinkove C: Bone-marrow transplantation for congenital erythropoietic porphyria. Lancet 337: 1510, 1991
16. Zix-Kieffer I, Langer B, Eyer D, Acar G, Racadot E, Schlaeder G, Oberlin F, Lutz P: Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunter's disease). Bone Marrow Transplant 18:217, 1996
17. Thomas C, Ged G, Nordmann Y, de Verneuil H, Pellier I, Fischer A, Blanche S: Correction of congenital erythropoietic porphyria by bone marrow transplantation. J Pediatr 129:453, 1996
18. Moreau-Gaudry F, Ged C, Barbot C, Mazurier F, Boiron JM, Bensidhoum M, Reiffers J, de Verneuil H: Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer. Hum Gene Ther 6:13, 1995
19. Moreau-Gaudry F, Mazurier F, Bensidhoum M, Ged C, de Verneuil H: Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B-cell lines. Blood 85:1449, 1995
20. Moreau-Gaudry F, Barbot B, Mazurier F, Mahon FX, Reiffers J, Ged C, de Verneuil H: Correction of the enzyme defect of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer. Hematol Cell Ther 38:217, 1996
21. Glass IA, Kauppinen R, Atweh G, Desnick RJ: Toward gene therapy for congenital erythropoietic porphyria. Am J Hum Genet 59:A198, 1996
22. Anderson MA, Gusella JF: Use of cyclosposrin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (Rockville) 20:856, 1984
23. Saiki RK, Gelfand DF, Stoffer JJ, HIguchi R, Horn GT, Mullis KB, Erlich A: Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487, 1988
24. Xu W, Warner CA, Desnick RJ: Congenital erythropoietic porphyria: Identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 95:905, 1995
25. Warner CA, Yoo HW, Roberts AG, Desnick RJ: Congenital erythropoietic porphyria: Identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest 89:693, 1992
26. Tsai SF, Bishop DF, Desnick RJ: Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. Anal Biochem 166:120, 1987
27. Tsai SF, Bishop DF, Desnick RJ: Human uroporphyrinogen III synthase: Molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Proc Natl Acad Sci USA 85:7049, 1988
28. Deka R, Chakrabory R, DeCroo S, Rothhammer F, Barton SA, Ferre RE: Characteristics of polymorphisms at a VNTR locus 3′ to the apolipoprotein B gene in five human populations. Am J Hum Genet 51:1325, 1992
29. Gordon B, Haire W, Patton D, Manno P, Reed E: Thrombotic complications of BMT: Association with protein C deficiency. Bone Marrow Transplant 11:61, 1993
30. Haining R, Cowger M, Labbe R, Finch C: Congenital erythropoietic porphyria. II. The effects of induced polycythemia. Blood 36:297, 1970
31. Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA: Splicing of messenger RNA precursors. Annu Rev Biochem 55:1119, 1986
32. Adamson J: Cord blood stem cell banking and transplantation. Stem Cells 15:57, 1997
33. Wagner J, Kurtzberg J: Cord blood stem cells. Curr Opin Hematol 4:413, 1997
34. Kurtzberg J, Laughlin M, Graham M, Smith C, Olson JF, Halperin EC, Ciocci G, Carrier C, Stevens CE, P-R: Placental blood as a source of hematopoietic stem cells for transplantation into unrelated recipients. N Engl J Med 335:157, 1996
35. Gluckman E, Rocha V, Boyer-Chammard A, Locatelli F, Arcese W, Pasquini R, Ortega J, Souillet G, Ferreira E, Laporte JP, Fernandez M, C-C: Outcome of cord-blood transplantation from related and unrelated donors. Eurocord Transplant Group and the European Blood and Marrow Transplantation Group. N Engl J Med 337:373, 1997
36. Moore MR, McColl KEL, Rimington C, Goldberg S: Disorders Of Porphyrin Metabolism. New York, NY, Plenum Medical Book Co, 1987