title: Living related liver transplantation from heterozygote genetic carriers to children with Wilson's disease.
abstract: We reviewed the outcome of children undergoing living related liver transplantation (LRLT) for Wilson's disease (WD), and specifically addressed the potential risk associated with the use of donors who were heterozygous for the Wilson genetic defect. LRLTs were carried out in 11 children with WD, nine of whom presented with fulminant hepatic failure and two with end-stage hepatic insufficiency. The age of the patients ranged from 6 to 16 yr. Eight patients had hepatic encephalopathy and were plasmapheresed preoperatively. The donors (all parents: six fathers and five mothers) were all one-haplotype matched with their respective recipients, and were all therefore heterozygote carriers of the WD genetic defect. The serum ceruloplasmin levels were within normal limits in all donors (mean: 20.0 +/- 2.85 mg/dL). All recipients but one had low serum ceruloplasmin levels with a mean value of 11.6 +/- 7.36 mg/dL before transplantation. The serum ceruloplasmin levels had increased to an average of 21.0 +/- 3.76 mg/dL after LRLT at the latest evaluation, which ranged between 7 and 75 months after transplantation. A marked reduction in urinary copper excretion was observed in all recipients after transplantation. Of eight recipients presenting preoperatively with Kayser-Fleischer (K-F) rings, this abnormality resolved completely after LRLT in five patients and partially in three. All recipients are alive and remain well, and none have developed signs of recurrent WD after a mean follow-up period of 31 months (range 7-75 months). In conclusion, LRLT is an excellent choice for effective treatment of WD, and grafts chosen from heterozygote carriers of the condition do not appear to confer any risk of recurrence in the recipients.
authors.affiliation: Department of Transplantation and Immunology, Faculty of Medicine, Kyoto University, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Asonuma
authors.forename: Y
authors.initials: Y
authors.lastname: Inomata
authors.forename: M
authors.initials: M
authors.lastname: Kasahara
authors.forename: S
authors.initials: S
authors.lastname: Uemoto
authors.forename: H
authors.initials: H
authors.lastname: Egawa
authors.forename: S
authors.initials: S
authors.lastname: Fujita
authors.forename: T
authors.initials: T
authors.lastname: Kiuchi
authors.forename: M
authors.initials: M
authors.lastname: Hayashi
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
mesh_terms: D000293:Adolescent; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000378:metabolism; D005220:Fathers; D005260:Female; D005500:Follow-Up Studies; D006239:Haplotypes; D006527:Hepatolenticular Degeneration / Q000235:genetics / Q000378:metabolism / Q000601:surgery*; D006579:Heterozygote; D006801:Humans; D007165:Immunosuppression Therapy; D016031:Liver Transplantation; D008297:Male; D009035:Mothers; D013997:Time Factors; D014019:Tissue Donors; D016896:Treatment Outcome
chemical_list: D003300:Copper; D002570:Ceruloplasmin