ABSTRACT
BACKGROUND: Long-term outcomes after living donor liver transplantation (LDLT) in Wilson's disease (WD) with heterozygous donors for WD gene are unknown. METHODS: LDLT was performed for 32 patients with WD (15 men, 17 women; mean age 16 years; range, 6-40 years) at Kyoto University Hospital from 1992 to 2006. The mean follow-up time from LDLT was 6.7+/-4.0 years (0.04-15.0 years). Donors were mainly parents (90.6%), who were obligatory carriers of the WD mutation. The present study examined retrospectively the copper metabolism, recurrence of WD, survival rate, and neurologic outcomes after LDLT. RESULTS: Mean ceruloplasmin at the time of LDLT was 9.7+/-7.3 mg/dL and increased to 22.3+/-5.3 mg/dL (normal, 18-37 mg/dL). Urinary copper decreased from 2704+/-901 to 73.7+/-5.2 microg/day (normal, <50 microg/day). Serum copper improved from 72.9+/-33.9 to 81.0+/-14.9 mg/dL (normal, 78-131 mg/dL). Although six patients died and two received retransplantation, the remaining 24 remain alive without recurrence, with overall survival rates of 90.6%, 83.7%, and 79.9% at 1, 5, and 10 years, respectively. Patients with chronic liver failure had a poorer prognosis (P<0.05). CONCLUSION: Use of liver grafts from heterozygous donors has been considered safe. Good improvements in copper metabolism were obtained without evidence of recurrence in long-term follow-up. Neuropsychologic presentations of WD improved or remained unchanged. Indications for liver transplantation in patients with WD with neurologic symptoms must be considered carefully based on the stage of neurologic damage and its irreversibility.
Subject(s)
Hepatolenticular Degeneration/surgery , Liver Transplantation , Living Donors , Adenosine Triphosphatases/genetics , Adolescent , Adult , Cation Transport Proteins/genetics , Ceruloplasmin/metabolism , Child , Copper/blood , Copper/urine , Copper-Transporting ATPases , Female , Graft Survival , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/genetics , Hepatolenticular Degeneration/metabolism , Hepatolenticular Degeneration/mortality , Heterozygote , Humans , Kaplan-Meier Estimate , Male , Mutation , Neuropsychological Tests , Recurrence , Reoperation , Retrospective Studies , Severity of Illness Index , Time Factors , Treatment Outcome , Young AdultABSTRACT
A 27-day-old boy had convulsion associated with brain abscesses and severe hypoxemia at the age of 3 months. Congenital absence of the portal vein (CAPV) and some associated anomalies were detected by radiological examinations. Brain abscess and hypoxemia were thought to be serious complications resulting from CAPV and were successfully corrected by living donor liver transplantation at the age of 4 months. This is the first report of a successful transplantation indicated for intrapulmonary shunt and brain abscess in an infant with CAPV.
