Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation - 02/09/11
Abstract |
Congenital erythropoietic porphyria (CEP), which is the result of a deficiency of uroporphyrinogen (URO) III synthase activity, is the most disfiguring porphyria in humans. Various methods of treatment have been used to treat CEP with varying success, including erythrocyte transfusion, hydroxyurea, and splenectomy. The only treatment that corrects the enzymatic defect resulting in a cure is bone marrow/stem cell transplantation, which has been reported previously in only 5 patients worldwide. We describe the first patient with CEP who underwent successful bone marrow transplantation performed in the United States and review the therapeutic options in the management of this challenging type of porphyria. (J Am Acad Dermatol 2001;45:279-82.)
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Reprint requests: Henry W. Lim, MD, Department of Dermatology, Henry Ford Hospital, 2799 W Grand Blvd, Detroit, MI 48202-2689. |
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J Am Acad Dermatol 2001;45:279-82 |
Vol 45 - N° 2
P. 279-282 - août 2001 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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