Titre du document / Document title

Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease)

Auteur(s) / Author(s)

ZIX-KIEFFER I. ⁽¹⁾ ; LANGER B. ⁽²⁾ ; EYER D. ⁽¹⁾ ; ACAR G. ⁽¹⁾ ; RACADOT E. ⁽³⁾ ; SCHLAEDER G. ⁽²⁾ ; OBERLIN F. ⁽⁴⁾ ; LUTZ P. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Pédiatrie I, Unité d'Onco-Hématologie, Institut de Puériculture, Strasbourg, FRANCE
⁽²⁾ Gynécologie-Obstétrique II, Strasbourg-Hautepierre, FRANCE
⁽³⁾ Centre de Transfusion Sanguine, Besançon, FRANCE
⁽⁴⁾ Service d'Hématologie, Strasbourg-Hautepierre, FRANCE

Résumé / Abstract

Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, fingernails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.

Revue / Journal Title

Bone marrow transplantation   ISSN 0268-3369   CODEN BMTRE9 

Source / Source

1996, vol. 18, n^o1, pp. 217-220 (25 ref.)

Langue / Language

Anglais

Editeur / Publisher

Nature Publishing Group , Basingstoke, ROYAUME-UNI  (1986) (Revue)

Mots-clés anglais / English Keywords

Erythropoietic porphyria ; Homograft ; Graft ; Stem cell ; Hematopoietic cell ; Blood ; Umbilical cord ; Treatment ; Related donor ; Histocompatibility ; HLA-System ; Major histocompatibility system ; Case study ; Infant ; Enzymopathy ; Human ; Skin disease ; Photosensitivity ; Metabolic diseases ; Eye disease ; Hemopathy ; Genetic disease ; Bullous dermatosis ; Transfusion ;

Mots-clés français / French Keywords

Porphyrie érythropoïétique ; Homogreffe ; Greffe ; Cellule souche ; Cellule hématopoïétique ; Sang ; Cordon ombilical ; Traitement ; Donneur apparenté ; Histocompatibilité ; Système HLA ; Système histocompatibilité majeur ; Etude cas ; Nourrisson ; Enzymopathie ; Homme ; Peau pathologie ; Photosensibilité ; Métabolisme pathologie ; Oeil pathologie ; Hémopathie ; Maladie héréditaire ; Dermatose bulleuse ; Transfusion ;

Mots-clés espagnols / Spanish Keywords

Porfiria eritropoyética ; Homoinjerto ; Injerto ; Célula primitiva ; Célula hematopoyética ; Sangre ; Cordón umbilical ; Tratamiento ; Donador relacionado ; Histocompatibilidad ; Sistema HLA ; Sistema histocompatibilidad mayor ; Estudio caso ; Lactante ; Enzimopatía ; Hombre ; Piel patología ; Fotosensibilidad ; Metabolismo patología ; Ojo patología ; Hemopatía ; Enfermedad hereditaria ; Dermatosis bulosa ; Transfusión ;

Localisation / Location

INIST-CNRS, Cote INIST : 21176, 35400006052998.0330