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Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria
Author(s) -
Faraci Maura,
Morreale Giuseppe,
Boeri Elio,
Lanino Edoardo,
Dallorso Sandro,
Dini Giorgio,
Scuderi Francesca,
Cohen Am,
Cappelli Barbara
Publication year - 2008
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2007.00842.x
Subject(s) - medicine , erythropoiesis , porphyria , anemia , bone marrow transplantation , ineffective erythropoiesis , disease , transplantation , pediatrics , bone marrow , hemolytic anemia , surgery
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.