Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria

Pediatric Transplantation
Maura FaraciBarbara Cappelli

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.

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May 25, 2010·Journal of Inherited Metabolic Disease·Cary O Harding, K M Gibson
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Dec 18, 2019·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Caroline BesnardMarie-Louise Frémond

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