title: Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria.
abstract: CEP is a rare inborn error of porphyrin-heme synthesis. Clinical manifestations can range from mild to severe and include erythrodontia, reddish-colored urine, and hemolytic anemia that can be mild or severe and may result in splenomegaly. Completely avoiding exposure to the sun is crucial. Attempts to reduce erythropoiesis and to lower circulating porphyrin levels by means of erythrocyte transfusions have been successful in reducing the expression of the disease. However, the complications of a chronic transfusion regimen are potentially severe. Successful bone marrow transplantation has been reported in CEP. We report a case of successful bone marrow transplantation and prolonged follow-up in an adolescent CEP patient.
authors.affiliation: Department of Hematology and Oncology, G. Gaslini Institute, Genoa, Italy.
authors.forename: Maura
authors.initials: M
authors.lastname: Faraci
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Morreale
authors.forename: Elio
authors.initials: E
authors.lastname: Boeri
authors.forename: Edoardo
authors.initials: E
authors.lastname: Lanino
authors.forename: Sandro
authors.initials: S
authors.lastname: Dallorso
authors.forename: Giorgio
authors.initials: G
authors.lastname: Dini
authors.forename: Francesca
authors.initials: F
authors.lastname: Scuderi
authors.forename: Amnon
authors.initials: A
authors.lastname: Cohen
authors.forename: Barbara
authors.initials: B
authors.lastname: Cappelli
mesh_terms: D002648:Child; D016572:Cyclosporine / Q000627:therapeutic use; D006086:Graft vs Host Disease / Q000188:drug therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D017092:Porphyria, Erythropoietic / Q000601:surgery*; D011788:Quality of Life; D013472:Sunlight; D019172:Transplantation Conditioning
chemical_list: D007166:Immunosuppressive Agents; D016572:Cyclosporine