Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
Congenital erythropoietic porphyria (CEP; Gunther disease; OMIM 263700) is a rare autosomal recessive disorder caused by a deficiency of uroporphyrinogen III synthase (UROS). The deficiency of this enzyme is associated with lifelong overproduction of series I porphyrins which circulate and are deposited in many tissues, causing light-sensitisation and severe damage to skin beginning in childhood. Blistering and scarring of exposed areas may lead to mutilating deformities. We describe two cases: a 4-year-old boy and his first cousin who were cured of CEP by matched unrelated donor bone marrow transplants. Both are alive and disease-free 3 and 2 years post-transplant, respectively. Cutaneous lesions improved dramatically. The correction of the enzyme deficiency was confirmed by measuring erythrocyte UROS activity and urinary porphyrin excretion. Chimerism was complete for both children. Both patients were homoallelic for a novel mutation of the UROS gene, the missense mutation A69T.


CONCLUSIONS
Considering the severity of the disease, if HLA-matched sibling donor is not available, haematopoietic stem cell transplantation using a matched unrelated donor should be strongly considered for treating congenital erythropoietic porphyria since this is currently the only known curative therapy.
Dupuis-Girod
Sophie
S
Immuno-hématologie Pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, 29 rue Soeur Bouvier, 6932 Lyon Cedex 05, France. sophie.dupuis@chu-lyon.fr
Akkari
Véronique
V
Ged
Cécile
C
Galambrun
Claire
C
Kebaïli
Kamila
K
Deybach
Jean-Charles
JC
Claudy
Alain
A
Geburher
Lucette
L
Philippe
Noël
N
de Verneuil
Hubert
H
Bertrand
Yves
Y
D002675:Child, Preschool; D046528:Chimerism; D003241:Consanguinity; D005091:Exons; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics
D014576:Uroporphyrinogen III Synthetase