Living donor liver transplantation in treating glycogen storage disease type Ia

Objective\r\nTo investigate living donor liver transplantation (LDLT) for glycogen storage disease type Ⅰa (GSD Ⅰa).\r\n\r\n\r\nMethod\r\nFrom March 2012 to December 2014, 4 children (2 males and 2 females) were diagnosed as GSD Ⅰa and they all received LDLT in our center. Among them, 1 was judged as Child-Pugh stage A and 3 as stage B. All patients received grafts from their parents. The median age of all patients was 7.5 years (1.0 to 13.5 years) and their median follow-up time was 13 months (7 to 35 months).\r\n\r\n\r\nResult\r\nAll patients had normal serum glucose level without any dietary treatment immediately after transplantation. Liver function returned to normal within 2 weeks after liver transplantation. The metabolic disorder was corrected and liver function stayed normal during the follow-up period. In 2 patients who had the follow-up time more than one year, serum hemoglobin level was increased. The anemia was corrected from one year after liver transplantation. Development was improved in all patients to some extent, but at 18th month after transplantation, no patient reached the average developmental level of normal population. Two patients suffered from acute graft rejection and cytomegalovirus infection, and 1 patient from catheter related infection. All of them were cured. In 1 patient, serum creatinine was increased at 6th month after liver transplantation. The dose of mycophenolate mofetil was increased and that of tacrolimus decreased. The kidney function of this patient returned to the normal level two weeks later.\r\n\r\n\r\nConclusion\r\nThe primary indications for liver transplantation in GSD Ⅰa patients are suspicion of hepatocellular carcinoma, severe metabolic derangement and growth retardation. All donors and recipients recovered satisfactorily. LDLT is an effective way for the treatment of GSD Ⅰa. After LT, the deranged glucose metabolism was corrected and development was improved. However, due to the expression of mutated gene G6PC in the kidney and renal toxicity of immunosuppressant, the kidney function of GSD Ⅰa patients after LT should be closely monitored.\r\n\r\n\r\nKey words: \r\nPediatric; Glycogen storage disease; Liver transplantation; Outcome