Recent advances in the understanding of inborn metabolic defects have led to significant improvements in selection, timing and management of patient undergoing liver transplantation (LT) for these disorders. LT can cure defects mainly confined to the liver, such as Crigler-Najjar syndrome, urea cycle defects, maple syrup urine disease and primary hyperoxaluria, or improve the phenotype of defects expressed also in other organs, such as propionic and methylmalonic acidurias or some glycogen storage defects. With the increasing confidence gathered in the field of LT, this procedure has been considered in a growing range of metabolic disorders. In some other complex metabolic conditions, such as mitochondrial cytopathies, though, the indication to LT remains troublesome and controversial. Other important issues to further explore in this setting are the extensive use of heterozygous donors (usually safe), the strategy of domino transplantation (feasible in few cases), the importance of transplanting at early ages versus later in childhood and a timely consideration of other treatment options that are rapidly developing for these patients, such as cell transplantation and gene therapy.
Burlina, A., D'Antiga, L. (2019). Liver transplantation for inherited metabolic disorders. In L. D'Antiga (a cura di), Pediatric Hepatology and Liver Transplantation (pp. 603-624). Springer International Publishing [10.1007/978-3-319-96400-3_35].
Liver transplantation for inherited metabolic disorders
D'Antiga L.
2019
Abstract
Recent advances in the understanding of inborn metabolic defects have led to significant improvements in selection, timing and management of patient undergoing liver transplantation (LT) for these disorders. LT can cure defects mainly confined to the liver, such as Crigler-Najjar syndrome, urea cycle defects, maple syrup urine disease and primary hyperoxaluria, or improve the phenotype of defects expressed also in other organs, such as propionic and methylmalonic acidurias or some glycogen storage defects. With the increasing confidence gathered in the field of LT, this procedure has been considered in a growing range of metabolic disorders. In some other complex metabolic conditions, such as mitochondrial cytopathies, though, the indication to LT remains troublesome and controversial. Other important issues to further explore in this setting are the extensive use of heterozygous donors (usually safe), the strategy of domino transplantation (feasible in few cases), the importance of transplanting at early ages versus later in childhood and a timely consideration of other treatment options that are rapidly developing for these patients, such as cell transplantation and gene therapy.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.