To investigate the clinical features of Alagille syndrome (AGS) and the efficacy and prognosis of liver transplantation in the treatment of AGS.

The clinical data of 6 children with AGS who received liver transplantation in the Huashan Hospital Affiliated to Fudan University from April 2015 to March 2019 were analyzed retrospectively. The median age was 15 months (6 months to 39 months). The mean preoperative pediatric end-stage liver disease score was (21±9). All of them had jaundice, pruritus and special facial features. JAG1 gene mutation was identified by gene diagnosis before operation. Four children received left lateral lobe living donor liver transplantation, and other 2 children received standard orthotopic liver transplantation.

All the operations were successfully completed. The 6 recipients were followed for 12 months (3-50 months) up to July 2019. The recipients and grafts were all normal with no acute hepatic failure, vascular complications or rejection during follow-up period. Symptoms such as jaundice and itching subsided achived relief, and the volume of the yellow tumor gradually decreased to disappear. The function of liver grafts was normal, and the growth and development improved. One recipient developed cholangioentelangeal stenosis and intrahepatic bile duct dilatation 1 week after transplantation, and he was cured after receiving biliary anastomosis 1 month after operation. Two cases had infection related complications, 1 was eosinophilic gastroenteritis with EBV infection and the other was CMV infection, all of which were cured. The Z-values of height and body weight of 6 recipients were [- 3.0 (-1.97~-3.90)] and [-3.1(-2.38~-3.40)], (-3.0±0.6) and (-1.6±0.8) before and 1 month after transplantation, respectively, the differences were statistically significant (Z=2.201, t=4.590, P all <0.05); alanine aminotransferase, total bilirubin and cholesterol were (680±481) and (37±16) U/L, (300±165) and (17±11) μmmol / L, (16.5±9.7) and (1.3±0.6) U/L, respectively. The difference was statistically significant (t=3.119, 4.316 and 3.984, P all <0.05).

Liver transplantation is effective for the treatment of AGS, which can achieve favourable prognosis for children with ineffective medical treatment.