Monogenic diseases that can be cured by liver transplantation

摘要: While the prevalence of most diseases caused by single-gene mutations is low and defines them as rare conditions, all together, monogenic account for approximately 10 in every 1000 births according to World Health Organisation. Orthotopic liver transplantation (LT) could offer a therapeutic option two ways: substituting an injured or supplying tissue that can replace mutant protein. In this respect, LT may be regarded correction disease at level dysfunctional Monogenic involve represent heterogeneous group disorders. conditions associated with predominant parenchymal damage (i.e., genetic cholestatic disorders, Wilson's disease, hereditary hemochromatosis, tyrosinemia, α1 antitrypsin deficiency), hepatic complications are major source morbidity not only replaces but also corrects defect effectively cures disease. A second includes liver-based disorders characterised architecturally near-normal (urea cycle Crigler-Najjar syndrome, familial amyloid polyneuropathy, primary hyperoxaluria type 1, atypical haemolytic uremic syndrome-1). these defects, extrahepatic main mortality while function relatively preserved. Combined other organs required, surgical techniques, such domino auxiliary transplantation, have been attempted. third diseases, underlying expressed systemic involvement just one clinical manifestations. might partially curative since abnormal phenotype maintained synthesis toxic metabolites methylmalonic acidemia, propionic acidemia). This review focuses on principles diagnosis, management results both paediatric adult populations selected which examples different strategies, driven understanding expression defect.