Faculty Collaboration Database

Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. Bone Marrow Transplant 2001 Jan;27(1):101-5

Date

03/13/2001

Pubmed ID

11244446

DOI

10.1038/sj.bmt.1702738

Scopus ID

2-s2.0-0035141108 (requires institutional sign-in at Scopus site)   63 Citations

Abstract

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity and mutilating skin lesions. We describe the case of a 23-month-old boy who was cured of his CEP by a matched-sibling allogeneic bone marrow transplant, and review the published clinical experience regarding transplantation in this disease. He is alive and disease-free 15 months post transplant. All of his disease manifestations except for the erythrodontia have resolved. His UIIIC level and stool and erythrocyte porphyrin metabolites have almost completely corrected. He is the sixth child reported to be cured of this disease by stem cell transplantation, five cases being long-term survivors. If patients with this disease have an HLA-matched sibling, then stem cell transplantation should be strongly considered because this is currently the only known curative therapy.

Author List

Shaw PH, Mancini AJ, McConnell JP, Brown D, Kletzel M

Author

Peter H. Shaw MD Associate Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Blood Donors
Disease-Free Survival
Hematopoietic Stem Cell Transplantation
Humans
Infant
Male
Nuclear Family
Porphyria, Erythropoietic
Transplantation, Homologous