scholarly journals Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction

2020 ◽  
Vol 26 (4) ◽  
pp. 704-711 ◽  
Author(s):  
Caroline Besnard ◽  
Caroline Schmitt ◽  
Louise Galmiche-Rolland ◽  
Dominique Debray ◽  
Monique Fabre ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Liver Dysfunction ◽  
Marrow Transplantation ◽  
Sustained Efficacy ◽  
Congenital Erythropoietic Porphyria

Analysing early liver dysfunction after bone marrow transplantation

1993 ◽  
Vol 1 (3) ◽  
pp. 163-171
Author(s):  
Jan Storek ◽  
Robert Peter Gale ◽  
Leonard Goldstein
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Liver Dysfunction ◽  
Marrow Transplantation

Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation

2001 ◽  
Vol 45 (2) ◽  
pp. 279-282 ◽  
Author(s):  
Frederick A. Harada ◽  
Tor A. Shwayder ◽  
Robert J. Desnick ◽  
Henry W. Lim
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Congenital Erythropoietic Porphyria

Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation

Blood ◽  
1998 ◽  
Vol 92 (11) ◽  
pp. 4053-4058 ◽  
Author(s):  
I. Tezcan ◽  
W. Xu ◽  
A. Gurgey ◽  
M. Tuncer ◽  
M. Cetin ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Allogeneic Bone Marrow Transplantation ◽  
Clinical Severity ◽  
Allogeneic Bone ◽  
Cutaneous Lesions ◽  
Hematopoietic Stem ◽  
Congenital Erythropoietic Porphyria

Abstract The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis resulting from mutations in the uroporphyrinogen III synthase (URO-synthase) gene. Three years post-BMT, the recipient had normal hemoglobin, markedly reduced urinary porphyrin excretion, and no cutaneous lesions with unlimited exposure to sunlight. The patient was homoallelic for a novel URO-synthase missense mutation, G188R, that expressed less than 5% of mean normal activity in Escherichia coli, consistent with her transfusion dependency. Because the clinical severity of CEP is highly variable, ranging from nonimmune hydrops fetalis to milder, later onset forms with only cutaneous lesions, the importance of genotyping newly diagnosed infants to select severely affected patients for BMT is emphasized. In addition, the long-term effectiveness of BMT in this patient provides the rationale for future hematopoietic stem cell gene therapy in severely affected patients with CEP.

LIVER DYSFUNCTION IN ALLOGENEIC BONE MARROW TRANSPLANTATION RECIPIENTS

1996 ◽  
Vol 62 (1) ◽  
pp. 56-61 ◽  
Author(s):  
Nabih Azar ◽  
Dominique Valla ◽  
Issam Abdel-Samad ◽  
Catherine Hoang ◽  
Catherine Fretz ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Liver Dysfunction ◽  
Marrow Transplantation ◽  
Allogeneic Bone Marrow Transplantation ◽  
Allogeneic Bone Marrow ◽  
Allogeneic Bone

Bone-marrow transplantation for congenital erythropoietic porphyria

The Lancet ◽  
1991 ◽  
Vol 337 (8756) ◽  
pp. 1510-1511 ◽  
Author(s):  
L. Kauffman ◽  
D.I.K. Evans ◽  
R.F. Stevens ◽  
C. Weinkove
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Congenital Erythropoietic Porphyria

scholarly journals Bone marrow transplantation and liver dysfunction.

1992 ◽  
Vol 32 (1) ◽  
pp. 47-54
Author(s):  
Naoyuki Hayashishita ◽  
Masahiro Imamura ◽  
Toshio Higa
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Liver Dysfunction ◽  
Marrow Transplantation
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