ALLOGENEIC BONE-MARROW TRANSPLANTATION IN CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHERS-DISEASE)

Introduction. The congenital erythropoietic porphyria (Gunther's disea se) (CEP) is a rare autosomal recessively metabolic disease due to the deficit of uroporphyrinogen III cosynthetase, fourth enzyme of the po rphyrin-heme biosynthesis. This disease is characterized by severe cut aneous photosensitivity with profond skin lesions, hemolytic anemia an d excess of uroporphyrin I excretion. The vital prognosis is very bad and until now, no treatment seems to be efficient. Bone marrow transpl antation seems to be able to correct the enzymatic deficit that causes the disease because it is located in the bone marrow. Observation. We report the case of a four and a half year old girl who received an al logeneic bone marrow transplantation (BMT) at the age of two. Despite an encouraging result, the first transplantation failed. A second allo geneic transplantation was attempted eight months later with the same HLA identical heterozygous donor and bone marrow engrafment succeeded. Twenty one months after the second bone mal row transplantation, clin ical and biological results are still excellent. Discussion. No classi cal treatment of CEP really proved its efficiency and no one was curat ive. CEP resulting from an homozygous deficiency in uroporphyrinogen I II cosynthetase, enzyme that takes part in the porphyrin-heme biosynth esis which is principaly located in the erythropoietic system of the b one marrow, substitution of this defective lineage by BMT was a very a ttractive treatment to correct this anomaly. The first bone marrow tra nsplantation attempted on an affected child in 1990 in Manchester fail ed because the patient died of infections complications. After the fai lure of the first transplantation, our little patient is now healed tw enty one months after the second BMT and biochemical anomalies are cor rected. If a long follow up is necessary to appreciate the long-term e fficiency of this treatment, allogeneic bone marrow transplantation se ems to cure Gunther's disease and must be proposed as the treatment of this affection.