title: Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
abstract: 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.
authors.affiliation: Department of Dermatology, Hospital Virgen de las Nieves, Granada, Spain. carpeinado@hotmail.es
authors.forename: Carmen
authors.initials: C
authors.lastname: Martinez Peinado
authors.forename: Cristina
authors.initials: C
authors.lastname: Díaz de Heredia
authors.forename: Jordi
authors.initials: J
authors.lastname: To-Figueras
authors.forename: Salvador
authors.initials: S
authors.lastname: Arias-Santiago
authors.forename: Paloma
authors.initials: P
authors.lastname: Nogueras
authors.forename: Izaskun
authors.initials: I
authors.lastname: Elorza
authors.forename: Teresa
authors.initials: T
authors.lastname: Olivé
authors.forename: Célia
authors.initials: C
authors.lastname: Bádenas
authors.forename: M José
authors.initials: MJ
authors.lastname: Moreno
authors.forename: Jesús
authors.initials: J
authors.lastname: Tercedor
authors.forename: Carmen
authors.initials: C
authors.lastname: Herrero
mesh_terms: D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D008297:Male; D017092:Porphyria, Erythropoietic / Q000235:genetics / Q000628:therapy*; D016896:Treatment Outcome; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics
chemical_list: D014576:Uroporphyrinogen III Synthetase