TY - JOUR
T1 - Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation
AU - Harada, Frederick A.
AU - Shwayder, Tor A.
AU - Desnick, Robert J.
AU - Lim, Henry W.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/0034909848
U2 - 10.1067/mjd.2001.114730
DO - 10.1067/mjd.2001.114730
M3 - Article
C2 - 11464191
AN - SCOPUS:0034909848
SN - 0190-9622
VL - 45
SP - 279
EP - 282
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 2
ER -