Analysis In Role Of Liver Transplantation In Pediatric Monogenic Diseases

Object:Pediatric monogenic diseases(MDs) is defined as the diseases caused by single-gene mutation and characterized as organ dysfunction and metabolic abnormalities. MDs could result to toxic products accumulation and growth retardation in children, which may finally cause death. MDs type I is the conditions that mutated genes is primarily expressed on liver, which is associated with predominant liver parenchymal damage and hepatic complications are the major source of morbidity. Liver transplantation(LT) in these MDs not only replaces a dysfunctional liver but also corrects the genetic defect and effectively cures the disease. In this article we analyzed the optimal operation time, outcomes, post-operative complications and total survival after LT in MDs.Methods:We retrospectively analyzed the cases in which the patients received LT for pediatric MDs in our center from October 2006 to December 2014. We selectively picked up six children with Alagille syndrome, five with glycogen storage disease type Ia, four with hereditary tyrosinemia I and six with progressive familiar intrahepatic cholestasis, with a total 21 patients(15 males and 6 females) and a mean age of 6.18 yr. Among them, one patient received orthotropic LT and the others received living donor liver transplantation, with all donors were patients’ parents. We retrospectively analyzed the clinical manifestations, diagnosis, pre-transplant treatment plans, outcomes of LT, complications after LT and post-LT survival rate in each disease. What’s more, we also analyzed the optimal time for LT, overall survival rate and their follow-ups.Results:The results indicated that LT could efficiently correct metabolic abnormalities and restore the function. The overall 1-year survival rate is more than 90%, and all patients had an improved life quality after LT. The primary indications for LT is severe metabolic abnormalities with growth retardation, end-stage liver disease or potential malignancy. One patient with GSD Ia who received orthotropic LT die one month after operation for graft versus host disease and one with AGS died two weeks after LT for consistent abdominal infection. All other patients are alive so far. All survivors now had a normal liver and renal functions, corrected growth and normal social activity, with no major complications. In the meantime, by analyzing patients received LDLT in this study we found that all primary diseases were removed after LT in children and no explant-related complication was detected. All donors had a good recovery after operation and no major complications were reported.Conclusions:LT is an efficient mean in treating type I MDs. It could correct the metabolic abnormalities and liver damage in patients, with a satisfactory survival rate. The accurate diagnosis of MDs and following treatment is essential for the prognosis of MDs. For patients with affected renal function or congenital organ abnormalities apart from liver, close monitor to renal function and related signs after LT in very necessary.