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Correction of congenital erythropoietic porphyria by bone marrow transplantation

Congenital erythropoietic porphyria (Gunther disease) is a rare metabolic disorder caused by uroporphyrinogen III synthetase deficiency. We report the case of a 2-year-old girl with a severe form of this disease who received HLA-identical bone marrow transplantation from her heterozygous sister. Two...

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Bibliographic Details
Published in:The Journal of pediatrics 1996-09, Vol.129 (3), p.453-456
Main Authors: Thomas, Caroline, Ged, Cecile, Nordmann, Yves, de Verneuil, Hubert, Pellier, Isabelle, Fischer, Alain, Blanche, Stéphane
Format: Article
Language:English
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Summary:Congenital erythropoietic porphyria (Gunther disease) is a rare metabolic disorder caused by uroporphyrinogen III synthetase deficiency. We report the case of a 2-year-old girl with a severe form of this disease who received HLA-identical bone marrow transplantation from her heterozygous sister. Two transplantations were necessary to obtain full hematopoietic chimerism. Correction of the enzyme deficiency was confirmed by measuring erythrocyte uroporphyrinogen III synthetase activity. The patient's clinical condition improved dramatically, and she is well 1 year after the second transplantation, with no further treatment. Although long-term efficacy remains to be confirmed, we conclude that allogeneic bone marrow transplantation can cure patients with congenital erythropoietic porphyria. (J P EDIATR 1996;129:453-6)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(96)70082-3