To evaluate the safety and clinical efficacy of liver transplantation for children with inherited metabolic liver disease.

Clinical data of 44 children with inherited metabolic liver disease who underwent liver transplantation in the Third Affiliated Hospital of Sun Yat-sen University from January 2014 to July 2024 were retrospectively analyzed. Among them, 25 patients were male and 19 female, aged from 6 to 191 months, with a median age of 69 months. Preoperative pediatric end-stage liver disease (PELD) score, Z scores of weight and height, allograft characteristics, postoperative complications and survival and prognosis of liver donors were observed, and compared analysis was conducted with patients undergoing liver transplantation for biliary atresia. Kaplan-Meier survival analysis was used to calculate the survival rates of recipients and grafts. Group comparison was conducted by rank-sum test or t test.

Among 305 children undergoing liver transplantation, the proportion of children with inherited metabolic liver disease was 14.4%(44/305), secondary to 56.7%(173/305) of biliary atresia. The types of donor liver included 8 cases of living donor liver transplantation, 14 cases of total liver transplantation from organ donation after citizen death, 2 cases of reduced-size liver transplantation from organ donation after citizen death, and 20 cases of split liver transplantation from organ donation after citizen death, respectively. Preoperative Z score for height and weight in children with inherited metabolic liver disease were (-1.4±1.7) and (－0.6±1.5), significantly higher than (－2.1±0.9) and (－1.3±1.5) in those with biliary atresia (t=3.489, 2.675; both P<0.05). However, PELD scores between two groups were 13 (－1-22) and 15 (7-22), and the difference was not statistically significant (Z=-0.934, P>0.05). In the spectrum of complications after liver transplantation, the incidence of pulmonary infection rate was 6.8%(3/44), followed by 4.5%(2/44) for acute rejection and 4.5%(2/44) for acute upper respiratory tract infection. The cumulative 1-, 2-and 3-year survival rates of the recipients and grafts were 95.45%, 95.45%, 95.45% and 95.45%, 95.45%, 93.18%, respectively. After liver transplantation, a majority of metabolic indexes and nervous system symptoms were alleviated to varying degrees. In addition, the growth and development status were improved to certain extent, especially at 1 year after liver transplantation, the Z scores for height and weight were significantly increased.

The quantity of children with inherited metabolic liver disease is high. Liver transplantation has emerged as an important treatment for inherited metabolic liver disease. The timing and perioperative management of liver transplantation for each disease are different, which should be analyzed and selected according to individual condition. Multiple surgical approaches, especially split liver transplantation, can alleviate the shortage of donor liver to some extent. PELD scoring system cannot fully meet clinical needs of these children. It is urgent to formulate a more reasonable organ allocation scoring standard to ensure that these children can undergo liver transplantation in a timely manner.