title: Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis.
abstract: XLP is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in XLP is mutation of the gene ALAS2, resulting in gain of function for the erythroid enzyme 5-aminolevulinate synthase 2. Previous reports have shown that protoporphyrin-induced liver disease may also occur in XLP, occasionally severe enough to warrant liver transplantation; however, transplantation may be followed by injury to the graft due to continued presence of the underlying metabolic disorder in the bone marrow. We present a case of XLP with severe liver disease successfully treated with HPCT to avoid liver transplantation. The case also demonstrates the feasibility of reduced intensity transplant to provide engraftment sufficient for correction of porphyria and tolerability of reduced intensity conditioning containing TLI in the face of severe liver injury.
authors: Department of Pediatrics, Childrens Mercy Hospital, Kansas City, MO, USA.
authors: David F
authors: DF
authors: Butler
authors: Kevin F
authors: KF
authors: Ginn
authors: James F
authors: JF
authors: Daniel
authors: Joseph R
authors: JR
authors: Bloomer
authors: Alexander
authors: A
authors: Kats
authors: Nancy
authors: N
authors: Shreve
authors: Gary D
authors: GD
authors: Myers
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics; D001706:Biopsy; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D040181:Genetic Diseases, X-Linked / Q000628:therapy*; D008040:Genetic Linkage; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000628:therapy*; D008111:Liver Function Tests; D008297:Male; D009154:Mutation; D046351:Protoporphyria, Erythropoietic / Q000628:therapy*; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous
chemical_list: D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human
keywords: allogeneic stem cell transplantation; bone marrow transplantation; chronic liver disease; cirrhosis; erythropoietic protoporphyria; pediatrics