title: Living donor liver transplantation for ornithine transcarbamylase deficiency.
abstract: Ornithine transcarbamylase deficiency, the most common urea cycle disorder, causes hyperammonemic encephalopathy and has a poor prognosis. Recently, LT was introduced as a radical OTCD treatment, yielding favorable outcomes. We retrospectively analyzed LT results for OTCD at our facility. Twelve children with OTCD (six boys and six girls) accounted for 7.1% of the 170 children who underwent LDLT at our department between May 2001 and April 2010. Ages at LT ranged from nine months to 11 yr seven months. Post-operative follow-up period was 3-97 months. The post-operative survival rate was 91.7%. One patient died. Two patients who had neurological impairment preoperatively showed no alleviation after LT. All patients other than those who died or failed to show recovery from impairment achieved satisfactory quality-of-life improvement after LT. The outcomes of LDLT as a radical OTCD treatment have been satisfactory. However, neurological impairment associated with hyperammonemia is unlikely to subside even after LT. It is desirable henceforth that more objective and concrete guidelines for OTCD management be established to facilitate LDLT with optimal timing while avoiding the risk of hyperammonemic episodes.
authors.affiliation: Department of Transplant Surgery, Jichi Medical University, Shimotsuke, Tochigi, Japan. wakiya@jichi.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Wakiya
authors.forename: Y
authors.initials: Y
authors.lastname: Sanada
authors.forename: K
authors.initials: K
authors.lastname: Mizuta
authors.forename: M
authors.initials: M
authors.lastname: Umehara
authors.forename: T
authors.initials: T
authors.lastname: Urahasi
authors.forename: S
authors.initials: S
authors.lastname: Egami
authors.forename: S
authors.initials: S
authors.lastname: Hishikawa
authors.forename: T
authors.initials: T
authors.lastname: Fujiwara
authors.forename: Y
authors.initials: Y
authors.lastname: Sakuma
authors.forename: M
authors.initials: M
authors.lastname: Hyodo
authors.forename: K
authors.initials: K
authors.lastname: Murayama
authors.forename: K
authors.initials: K
authors.lastname: Hakamada
authors.forename: Y
authors.initials: Y
authors.lastname: Yasuda
authors.forename: H
authors.initials: H
authors.lastname: Kawarasaki
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006084:Graft Rejection; D006085:Graft Survival; D006801:Humans; D007223:Infant; D007564:Japan; D017093:Liver Failure / Q000209:etiology / Q000401:mortality / Q000601:surgery*; D016031:Liver Transplantation / Q000009:adverse effects / Q000379:methods*; D019520:Living Donors; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000175:diagnosis; D011183:Postoperative Complications / Q000401:mortality / Q000503:physiopathology; D018570:Risk Assessment; D012720:Severity of Illness Index; D015996:Survival Rate; D013997:Time Factors; D016896:Treatment Outcome