Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia

Liver transplantation may be indicated in patients with GSD type Ia when di etary treatment fails or when hepatic adenomas develop, because they carry a risk of liver cancer or severe intratumoral haemorrhage. Published report s on the results of liver transplantation in patients with GSD Ia include 1 0 patients and provide little information on long-term outcome. In particul ar, it is not known whether liver transplantation prevents renal failure du e to focal segmental glomerulosclerosis. We report here on 3 patients with GSD Ia in whom liver transplantation was performed at 15, 17 and 23 years o f age because of multiple hepatic adenomas in all 3 patients with a fear of malignant transformation, and of poor metabolic balance and severe growth retardation in the youngest one. Renal function was normal in all patients. During the 6-8 years following transplantation, the quality of life has in itially greatly improved, with none of the previous dietary restraints and a spectacular increase in height. However, long-term complications included chronic hepatitis C in one patient, gouty attacks in another and focal seg mental glomerulosclerosis with progressive renal insufficiency in the third . These results: (1) confirm that liver transplantation restores a normal m etabolic balance in patients with GSD Ia, allows catch-up growth and improv es the quality of life; (2) suggest that liver transplantation may be consi dered in teenagers with unresectable multiple adenomas because of a lack of clear-cut criteria to detect malignant transformation early; and (3) sugge st that liver transplantation does not prevent focal segmental glomeruloscl erosis associated with GSD Ia.