title: Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up.
abstract: Hepatocyte transplantation is an investigational alternative to orthotopic liver transplantation to treat liver based inborn errors of metabolism. We report successful hepatocyte transplantation in a 4-year-old girl with infantile Refsum disease. Hepatocytes were isolated from the left liver segment of two male donors using a classic two-step perfusion method. Fresh cells were transplanted first and then cryopreserved cells, for a total of 2 billion cells. Total bile acids and abnormal dihydroxycoprostanoïc acid markedly decreased in the patient's serum, indicating resolution of cholestasis and re-population of liver cells. Pipecholic acid decreased by 40% and c26:c22 fatty acid ratio by 36% after 18 months. Donor chromosomes sequences were detected on biopsy posttransplant, indicating engraftment. Hepatocyte transplantation is a safe and promising technique in the treatment of rare inborn errors of metabolism. Future improvements of cell viability and prevention of apoptosis may increase engraftment and subsequent re-population.
authors.affiliation: Cliniques St Luc, Université Catholique de Louvain, Brussels, Belgium. Sokal@pedi.ucl.ac.be.
authors.forename: Etienne M
authors.initials: EM
authors.lastname: Sokal
authors.forename: Françoise
authors.initials: F
authors.lastname: Smets
authors.forename: Annick
authors.initials: A
authors.lastname: Bourgois
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Buts
authors.forename: Raymond
authors.initials: R
authors.lastname: Reding
authors.forename: Jean
authors.initials: J
authors.lastname: Bernard Otte
authors.forename: Veerle
authors.initials: V
authors.lastname: Evrard
authors.forename: Dominique
authors.initials: D
authors.lastname: Latinne
authors.forename: Marie Françoise
authors.initials: MF
authors.lastname: Vincent
authors.forename: Anne
authors.initials: A
authors.lastname: Moser
authors.forename: Humberto E
authors.initials: HE
authors.lastname: Soriano
mesh_terms: D001647:Bile Acids and Salts / Q000378:metabolism; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D022781:Hepatocytes / Q000637:transplantation*; D006801:Humans; D010100:Oxygen / Q000097:blood; D018901:Peroxisomal Disorders / Q000378:metabolism / Q000628:therapy*
chemical_list: D001647:Bile Acids and Salts; D005227:Fatty Acids; D010100:Oxygen