TY - CHAP
T1 - Auxiliary partial orthotopic liver transplantation for monogenic metabolic liver diseases
T2 - Single-centre experience
AU - Shanmugam, Naresh P.
AU - Valamparampil, Joseph J.
AU - Reddy, Mettu Srinivas
AU - Al Said, Khoula Julenda
AU - Al-Thihli, Khalid
AU - Al-Hashmi, Nadia
AU - Al-Jishi, Emtithal
AU - Isa, Hasan Mohamed Ali
AU - Jalan, Anil B.
AU - Rela, Mohamed
N1 - Publisher Copyright:
© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018.
PY - 2019
Y1 - 2019
N2 - Purpose: Auxiliary partial orthotopic liver transplantation (APOLT) in metabolic liver disease (MLD) has the advantage of correcting the metabolic defect, preserving the native liver for gene therapy in the future with the possibility of withdrawal of immunosuppression. Methods: Retrospective analysis of safety and efficacy of APOLT in correcting the underlying defect and its impact on neurological status of children with MLD. Results: A total of 13 APOLT procedures were performed for MLD during the study period. The underlying aetiologies being propionic acidemia (PA)-5, citrullinemia type 1 (CIT1)-3 and Crigler-Najjar syndrome type 1 (CN1)-5 cases respectively. Children with PA and CIT1 had a median of 8 and 4 episodes of decompensation per year, respectively, before APOLT and had a mean social developmental quotient (DQ) of 49 (<3 standard deviations) as assessed by Vineland Social Maturity Scale prior to liver transplantation. No metabolic decompensation occurred in patients with PA and CIT1 intraoperatively or in the immediate post-transplant period on protein-unrestricted diet. Patients with CN1 were receiving an average 8–15 h of phototherapy per day before APOLT and had normal bilirubin levels without phototherapy on follow-up. We have 100% graft and patient survival at a median follow-up of 32 months. Progressive improvement in neurodevelopment was seen in children within 6 months of therapy with a median social DQ of 90. Conclusions: APOLT is a safe procedure, which provides good metabolic control and improves the neurodevelopment in children with selected MLD.
AB - Purpose: Auxiliary partial orthotopic liver transplantation (APOLT) in metabolic liver disease (MLD) has the advantage of correcting the metabolic defect, preserving the native liver for gene therapy in the future with the possibility of withdrawal of immunosuppression. Methods: Retrospective analysis of safety and efficacy of APOLT in correcting the underlying defect and its impact on neurological status of children with MLD. Results: A total of 13 APOLT procedures were performed for MLD during the study period. The underlying aetiologies being propionic acidemia (PA)-5, citrullinemia type 1 (CIT1)-3 and Crigler-Najjar syndrome type 1 (CN1)-5 cases respectively. Children with PA and CIT1 had a median of 8 and 4 episodes of decompensation per year, respectively, before APOLT and had a mean social developmental quotient (DQ) of 49 (<3 standard deviations) as assessed by Vineland Social Maturity Scale prior to liver transplantation. No metabolic decompensation occurred in patients with PA and CIT1 intraoperatively or in the immediate post-transplant period on protein-unrestricted diet. Patients with CN1 were receiving an average 8–15 h of phototherapy per day before APOLT and had normal bilirubin levels without phototherapy on follow-up. We have 100% graft and patient survival at a median follow-up of 32 months. Progressive improvement in neurodevelopment was seen in children within 6 months of therapy with a median social DQ of 90. Conclusions: APOLT is a safe procedure, which provides good metabolic control and improves the neurodevelopment in children with selected MLD.
KW - Auxiliary partial orthotopic liver transplantation
KW - Citrullinemia type 1
KW - Crigler-Najjar syndrome type 1
KW - Metabolic liver disease
KW - Propionic acidemia
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U2 - 10.1007/8904_2018_137
DO - 10.1007/8904_2018_137
M3 - Chapter
C2 - 30311140
AN - SCOPUS:85061088073
T3 - JIMD Reports
SP - 29
EP - 36
BT - JIMD Reports
PB - Springer
ER -