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Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation
Author(s) -
Martinez Peinado Carmen,
Díaz de Heredia Cristina,
ToFigueras Jordi,
AriasSantiago Salvador,
Nogueras Paloma,
Elorza Izaskun,
Olivé Teresa,
Bádenas Célia,
Moreno Mª José,
Tercedor Jesús,
Herrero Carmen
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12117
Subject(s) - medicine , hematopoietic stem cell transplantation , asymptomatic , porphyria , transplantation , hemolytic anemia , haematopoiesis , stem cell , immunology , gastroenterology , biology , genetics
Congenital erythropoietic porphyria ( CEP ), or Günther's disease, is an inborn error of metabolism produced by a deficiency of uroporphyrinogen III synthase ( UROS ), the fourth enzyme of the heme biosynthesis pathway. This enzymatic defect induces the accumulation of isomer I porphyrins in erythrocytes, skin, and tissues, producing various clinical manifestations. Severe cases are characterized by extreme photosensitivity, causing scarring and mutilations, and by hemolytic anemia, reducing life expectancy. CEP is caused by mutations in the UROS gene, and one of the most severe forms of the disease is associated with a cysteine to arginine substitution at residue 73 of the protein (C73R). CEP has been successfully treated only by the transplantation of hematopoietic precursors. We report the case of a male infant with severe postdelivery symptoms diagnosed with CEP and found to be homozygous for the C73R mutation. He underwent successful allogeneic bone marrow transplantation from a matched unrelated donor at 7 months of age. The hemolytic anemia was corrected and the porphyrin overproduction was significantly reduced. The patient remained asymptomatic after 1 year. This new case confirms that patients with severe CEP can benefit from early postnatal hematopoietic stem cell transplantation.